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: PA110231

Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5739

ClinVar RCV Id: RCV000006093 RCV000006094 RCV000086341 RCV000648818 RCV000786009 RCV001002998 RCV001073404 RCV003450617

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_957705.1:p.Gly1103Arg	CA117711 NM_201253.3:c.3307G>A CA344047037 NM_201253.3:c.3307G>C