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: PA2826216178

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251494

ClinVar RCV Id: RCV000238400

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Ile163Ser	CA10585166 NM_001195803.2:c.488T>G