Canonical Allele Identifier: PA2826212171
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1061080
ClinVar RCV Id: RCV001370596

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp54Ala
CA404074950
NM_001195799.2:c.161A>C