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: PA916000665

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252040

ClinVar RCV Id: RCV000237380 RCV002519851

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp601Val	CA10585621 NM_001195798.2:c.1802A>T