Canonical Allele Identifier: PA2826212643
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251462
ClinVar RCV Id: RCV000237935

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys229Ser
CA10585141
NM_001195799.2:c.685T>A
CA404080256
NM_001195799.2:c.686G>C