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: PA1139731885

Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 865973

ClinVar RCV Id: RCV001073612 RCV001862509

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_061971.3:p.Glu419Lys	CA4800091 NM_019098.5:c.1255G>A