Allele Registry

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.

Canonical Allele Identifier: PA2826192300

Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427127

ClinVar RCV Id: RCV000488946 RCV001834593 RCV003449262 RCV001851320 RCV003449263

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001180569.1:p.Gly722Asp	CA344037829 NM_001193640.2:c.2165G>A