Canonical Allele Identifier: PA2826214265
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3063942
ClinVar RCV Id: RCV003988530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Trp44Arg
CA305295235
NM_001195800.2:c.130T>C
CA404074804
NM_001195800.2:c.130T>A