Canonical Allele Identifier: PA915999811
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251741
ClinVar Variation Id: 251742
ClinVar RCV Id: RCV000238287

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg410Ser
CA10585365
NM_001195798.2:c.1230G>C
CA10585366
NM_001195798.2:c.1230G>T