Canonical Allele Identifier: PA2826217014
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1059537
ClinVar RCV Id: RCV001368838 RCV003169887 RCV002488147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu448Pro
CA404089679
NM_001195803.2:c.1343T>C