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: PA2826753940

Gene: LIG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16775

ClinVar RCV Id: RCV001843457

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001275993.1:p.Glu498Lys	CA126872 NM_001289064.2:c.1492G>A