Canonical Allele Identifier: PA645378000
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251654
ClinVar RCV Id: RCV000237400
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gln359_Asp360del
CA10585295
NM_000527.5:c.1076_1081del