Canonical Allele Identifier: PA645510801
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440589
ClinVar RCV Id: RCV000508831 RCV003236668
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro220_Asp221del
CA645509262
NM_000527.5:c.658_663del