Canonical Allele Identifier: PA916000165
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251850
ClinVar RCV Id: RCV000237631
ClinVar Variation Id: 440646
ClinVar RCV Id: RCV000508695 RCV001034671
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Trp483Cys
CA10585459
NM_001195798.2:c.1449G>T
CA404086103
NM_001195798.2:c.1449G>C