Canonical Allele Identifier: PA2826212842
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251588
ClinVar RCV Id: RCV000237664 RCV001804975
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Tyr295Cys
CA10585241
NM_001195799.2:c.884A>G