Canonical Allele Identifier: PA915999802
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 373430
ClinVar RCV Id: RCV000413896 RCV001299282 RCV002227157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu408Gln
CA16043073
NM_001195798.2:c.1222G>C