Canonical Allele Identifier: PA645376008
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251200
ClinVar RCV Id: RCV000237668
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp131His
CA10584899
NM_000527.5:c.391G>C