Canonical Allele Identifier: PA645376123
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251224

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys148Arg
CA10584920
NM_000527.5:c.442T>C