Canonical Allele Identifier: PA645375594
Gene: LDLR HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys89Arg
CA10584817
NM_000527.5:c.265T>C