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: PA2573185629

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1518023

ClinVar RCV Id: RCV002041241 RCV002386926

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Val436Glu	CA404085099 NM_001195798.2:c.1307T>A