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: PA2826447856

Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 866833

ClinVar RCV Id: RCV001075152 RCV003455402 RCV003455404 RCV003455403 RCV002557921

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001244895.1:p.Leu479Pro	CA35893495 NM_001257966.2:c.1436T>C