Canonical Allele Identifier: PA1139684991
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 923326
ClinVar RCV Id: RCV001183909

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser397Pro
CA404084655
NM_001195798.2:c.1189T>C