Canonical Allele Identifier: PA2826216672
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1120246

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ser317Phe
CA404085252
NM_001195803.2:c.950C>T