Canonical Allele Identifier: PA2826212496
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375790
ClinVar RCV Id: RCV000417335
ClinVar Variation Id: 928775
ClinVar RCV Id: RCV001193183 RCV001863055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp183Glu
CA16602307
NM_001195799.2:c.549C>A
CA404078393
NM_001195799.2:c.549C>G