Canonical Allele Identifier: PA916001838
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 629952
ClinVar RCV Id: RCV000774815 RCV004017732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys82del
CA913188974
NM_001195803.2:c.244_246del