Canonical Allele Identifier: PA645378104
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251679
ClinVar RCV Id: RCV000237921 RCV001063149 RCV002436076 RCV003391007
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Tyr375Cys
CA10585318
NM_000527.5:c.1124A>G