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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:
CA826034981
Gene: HCRTR2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1285915660
gnomAD v3:
6-55283309-AC-A
gnomAD v4:
6-55283309-AC-A
MyVariant Identifiers:
chr6:g.55148108del (hg19)
chr6:g.55283310del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.55283310del , CM000668.2:g.55283310del
GRCh38
NC_000006.11:g.55148108del , CM000668.1:g.55148108del
GRCh37
NC_000006.10:g.55256067del
NCBI36
NG_012447.1:g.114038del
NG_012447.2:g.181851del
Transcript Alleles
HGVS
Amino-acid change
XM_017010798.1:c.1331+860del
XP_016866287.1:n.1331+860del
Search 100 bp 5'
Search 100 bp 3'