Canonical Allele Identifier: PA2826213125
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1332345
ClinVar RCV Id: RCV001805391
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro383Leu
CA305300071
NM_001195799.2:c.1148C>T