Canonical Allele Identifier: PA2826212601
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183094
ClinVar RCV Id: RCV000161964 RCV002505197
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg216His
CA023759
NM_001195799.2:c.647_648delinsAC