Canonical Allele Identifier: PA2825178637
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977987

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys340Phe
CA031192
NM_000527.5:c.1019G>T