Canonical Allele Identifier: PA916001096
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252228
ClinVar RCV Id: RCV000238145
ClinVar Variation Id: 252230
ClinVar RCV Id: RCV000237812

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys711Ser
CA10585781
NM_001195798.2:c.2131T>A
CA10585783
NM_001195798.2:c.2132G>C