Canonical Allele Identifier: PA2826212432
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1171032
ClinVar RCV Id: RCV001523908

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser171Phe
CA404078074
NM_001195799.2:c.512C>T