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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA3808553
Gene: PRPH2
HGNC
NCBI
Linked Data
dbSNP Id:
rs531163228
ExAC:
6:42672259 C / G
gnomAD v2:
6-42672259-C-G
gnomAD v3:
6-42704521-C-G
gnomAD v4:
6-42704521-C-G
MyVariant Identifiers:
chr6:g.42672259C>G (hg19)
chr6:g.42704521C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.42704521C>G , CM000668.2:g.42704521C>G
GRCh38
NC_000006.11:g.42672259C>G , CM000668.1:g.42672259C>G
GRCh37
NC_000006.10:g.42780237C>G
NCBI36
NG_009176.1:g.23100G>C
NG_009176.2:g.23100G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000230381.7:c.672G>C
MANE Select
ENSP00000230381.5:p.Gln224His
ENST00000230381.6:c.672G>C
ENSP00000230381.5:p.Gln224His
NM_000322.4:c.672G>C
NP_000313.2:p.Gln224His
XR_427834.2:n.1327G>C
XR_427834.4:n.1377G>C
XR_926295.3:n.1559G>C
NM_000322.5:c.672G>C
MANE Select
NP_000313.2:p.Gln224His
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