Canonical Allele Identifier: PA916000785
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226380
ClinVar RCV Id: RCV000211621 RCV001090454 RCV001188072 RCV002408919 RCV004017507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg633His
CA037362
NM_001195798.2:c.1898G>A