Canonical Allele Identifier: PA645380268
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252216

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys698Phe
CA10585770
NM_000527.5:c.2093G>T