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: PA097220

Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 9105

ClinVar RCV Id: RCV000009673 RCV000009674 RCV000502425 RCV001249022 RCV001851773

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000343.2:p.Arg1379Cys	CA120112 NM_000352.6:c.4135C>T