Canonical Allele Identifier: PA915998392
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251234
ClinVar RCV Id: RCV000238165 RCV000484918 RCV000781509 RCV002518476 RCV003298312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala151Pro
CA043633
NM_001195798.2:c.451G>C