Canonical Allele Identifier: PA915998335
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369851
ClinVar RCV Id: RCV000408830
ClinVar Variation Id: 920596
ClinVar RCV Id: RCV001179446 RCV004033034
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys143Ser
CA10654844
NM_001195798.2:c.428G>C
CA404076414
NM_001195798.2:c.427T>A