Canonical Allele Identifier: PA2825179193
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 923326
ClinVar RCV Id: RCV001183909
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser397Pro
CA404084655
NM_000527.5:c.1189T>C