Canonical Allele Identifier: PA645378135
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251689
ClinVar RCV Id: RCV000237675
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gln384_Asp386del
CA10585329
NM_000527.5:c.1151_1159del