Canonical Allele Identifier: PA2826212364
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1389105
ClinVar RCV Id: RCV001886997

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg144Trp
CA404077229
NM_001195799.2:c.430A>T