Canonical Allele Identifier: PA2826213150
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1975487
ClinVar RCV Id: RCV002755705

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp392Ala
CA404085020
NM_001195799.2:c.1175A>C