Canonical Allele Identifier: PA1139698127
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 923651
ClinVar RCV Id: RCV001184538 RCV002491540
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu380Lys
CA305299740
NM_001195798.2:c.1138G>A