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: PA2826216885

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251903

ClinVar RCV Id: RCV000237644 RCV002519849

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Pro399Thr	CA10585508 NM_001195803.2:c.1195C>A