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: PA916000779

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252107

ClinVar RCV Id: RCV000237353 RCV001174944

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Arg633Leu	CA10585677 NM_001195798.2:c.1898G>T