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: PA645378927

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251904

ClinVar RCV Id: RCV000238413

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Pro526Arg	CA10585509 NM_000527.5:c.1577C>G