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: PA2826212468

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251356

ClinVar RCV Id: RCV000237890 RCV001050137

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Asp180Tyr	CA10585046 NM_001195799.2:c.538G>T