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: PA2826216411

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36452

ClinVar RCV Id: RCV000030124 RCV000775055 RCV002051646 RCV002426524

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp235Ala	CA023415 NM_001195803.2:c.704A>C