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: PA2826079991

Gene: SEC23B HGNC NCBI

Linked Data

ClinVar Variation Id: 2431450

ClinVar RCV Id: RCV003140504

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166217.1:p.Phe516Leu	CA312406964 NM_001172746.3:c.1548C>G CA408364125 NM_001172746.3:c.1546T>C CA408364130 NM_001172746.3:c.1548C>A