Canonical Allele Identifier: PA142528
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 48063
ClinVar RCV Id: RCV000041346 RCV000324940 RCV000653882 RCV001098094 RCV000853426 RCV001007778 RCV001182267 RCV001098095 RCV001098092 RCV001098093 RCV001099881 RCV001099882 RCV002336155 RCV003996462
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733821.1:p.Lys117Arg
CA017949
NM_170707.4:c.350A>G