Canonical Allele Identifier: PA2826212232
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251222
ClinVar RCV Id: RCV000238382 RCV001526129
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val104Ala
CA043591
NM_001195799.2:c.311T>C