Canonical Allele Identifier: PA1139698019
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926520
ClinVar RCV Id: RCV001189125 RCV003318667
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly335Arg
CA031125
NM_001195798.2:c.1003G>C