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: PA1139732242

Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 909568

ClinVar RCV Id: RCV001160704 RCV001160705

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_061971.3:p.Leu784Phe	CA4799742 NM_019098.5:c.2350C>T