Canonical Allele Identifier: PA2499241780
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1062644
ClinVar RCV Id: RCV001372381
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His388Asp
CA404083848
NM_001195798.2:c.1162C>G