Canonical Allele Identifier: PA235477
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183133

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp748Asn
CA023653
NM_000527.5:c.2242G>A