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: PA2827606177

Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 9105

ClinVar RCV Id: RCV000009673 RCV000009674 RCV000502425 RCV001249022 RCV001851773

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338226.1:p.Arg1378Cys	CA120112 NM_001351297.2:c.4132C>T