Canonical Allele Identifier: PA2826216741
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1332469
ClinVar RCV Id: RCV001805515 RCV003331208
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln347Glu
CA034281
NM_001195803.2:c.1039C>G