Canonical Allele Identifier: PA2826215607
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252184
ClinVar RCV Id: RCV000237441
ClinVar Variation Id: 252187
ClinVar RCV Id: RCV000237573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys513Ser
CA10585739
NM_001195800.2:c.1537T>A
CA10585742
NM_001195800.2:c.1538G>C