Canonical Allele Identifier: PA645377874
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431520
ClinVar RCV Id: RCV000497150
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu337_Cys338del
CA645373262
NM_000527.5:c.1009_1014del