Canonical Allele Identifier: PA100701
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251760

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile423Thr
CA10585381
NM_000527.5:c.1268T>C