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: PA645377984

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403634

ClinVar RCV Id: RCV000454469 RCV003581666

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ile355Met	CA16609809 NM_000527.5:c.1065C>G