Canonical Allele Identifier: PA2826212470
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 922184
ClinVar RCV Id: RCV001182114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp180Glu
CA404078342
NM_001195799.2:c.540C>G
CA404078344
NM_001195799.2:c.540C>A