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: PA645380136

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252176

ClinVar RCV Id: RCV000238171 RCV002518493

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly676Arg	CA10585731 NM_000527.5:c.2026G>C