Canonical Allele Identifier: PA2826212325
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251272
ClinVar RCV Id: RCV000237161 RCV000587092 RCV003477847 RCV004020950
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys132Arg
CA10584963
NM_001195799.2:c.394T>C