Canonical Allele Identifier: PA645378139
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251691

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu385Val
CA10585330
NM_000527.5:c.1153C>G