Canonical Allele Identifier: PA915999484
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251619
ClinVar RCV Id: RCV000237312 RCV001387172 RCV003477852
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys352Phe
CA10585269
NM_001195798.2:c.1055G>T