Canonical Allele Identifier: PA915999844
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161276
ClinVar RCV Id: RCV000211581 RCV000519267 RCV000775060 RCV002051669 RCV002362782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr413Met
CA023439
NM_001195798.2:c.1238C>T