Canonical Allele Identifier: PA2826212265
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251245
ClinVar RCV Id: RCV000237942

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser117Cys
CA10584937
NM_001195799.2:c.350C>G