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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:
CA2607326
Gene: RHO
HGNC
NCBI
Linked Data
dbSNP Id:
rs775579127
ExAC:
3:129252401 AAGCACACTGTGGGC / A
gnomAD v2:
3-129252401-AAGCACACTGTGGGC-A
MyVariant Identifiers:
chr3:g.129252402_129252415del (hg19)
chr3:g.129533559_129533572del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129533562_129533575del , CM000665.2:g.129533562_129533575del
GRCh38
NC_000003.11:g.129252405_129252418del , CM000665.1:g.129252405_129252418del
GRCh37
NC_000003.10:g.130735095_130735108del
NCBI36
NG_009115.1:g.9924_9937del
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.937-46_937-33del
MANE Select
ENSP00000296271.3:n.937-46_937-33del
ENST00000296271.3:c.937-46_937-33del
ENSP00000296271.3:n.937-46_937-33del
NM_000539.3:c.937-46_937-33del
MANE Select
NP_000530.1:n.937-46_937-33del
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