Canonical Allele Identifier: PA2826212681
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251483
ClinVar RCV Id: RCV000237583
ClinVar Variation Id: 251486
ClinVar RCV Id: RCV000237595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys243Ser
CA10585157
NM_001195799.2:c.727T>A
CA10585160
NM_001195799.2:c.728G>C