Canonical Allele Identifier: PA916001463
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251173
ClinVar RCV Id: RCV000237321
ClinVar Variation Id: 251176
ClinVar RCV Id: RCV000238114 RCV004546468
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys80Ser
CA10584872
NM_001195799.2:c.238T>A
CA10584875
NM_001195799.2:c.239G>C