Canonical Allele Identifier: PA2580164527
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1975487
ClinVar RCV Id: RCV002755705

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp433Ala
CA404085020
NM_001195798.2:c.1298A>C