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: PA2826213395

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430781

ClinVar RCV Id: RCV000495889

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Val483del	CA645373235 NM_001195799.2:c.1448_1450del