Canonical Allele Identifier: PA2826215045
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1713361
ClinVar RCV Id: RCV002295402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Asp309Glu
CA305300102
NM_001195800.2:c.927C>G
CA404085980
NM_001195800.2:c.927C>A