Canonical Allele Identifier: PA2826212138
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926987
ClinVar RCV Id: RCV001189924
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Tyr42Cys
CA404074783
NM_001195799.2:c.125A>G