Canonical Allele Identifier: PA2826212982
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183108
ClinVar RCV Id: RCV000161980 RCV000238222 RCV001034680 RCV003162682 RCV003422054
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gln337Pro
CA023422
NM_001195799.2:c.1010A>C