Canonical Allele Identifier: PA2826214221
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440540
ClinVar RCV Id: RCV000508969 RCV001857282
ClinVar Variation Id: 921285
ClinVar RCV Id: RCV001180627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys27Arg
CA404074603
NM_001195800.2:c.79T>C
CA913188962
NM_001195800.2:c.79_81delinsCGT