Canonical Allele Identifier: PA2826215844
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252318
ClinVar RCV Id: RCV000237802
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Leu630_Val632del
CA10585848
NM_001195800.2:c.1888_1896del