Canonical Allele Identifier: PA645377978
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251640
ClinVar RCV Id: RCV000237971 RCV000771574 RCV000786347 RCV003380529
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp354Val
CA10585282
NM_000527.5:c.1061A>T