Canonical Allele Identifier: PA645375820
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251170
ClinVar RCV Id: RCV000237310
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp118_Gly119delinsGlu
CA10584869
NM_000527.5:c.354_356del