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: PA2826211863

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430785

ClinVar RCV Id: RCV000495918

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp579_Ser580insLeu	CA645373242 NM_001195798.2:c.1738_1739insTGT