Canonical Allele Identifier: PA2826658962
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 48093
ClinVar RCV Id: RCV000041379 RCV000057489 RCV000560270 RCV001000784 RCV000769726 RCV001251293 RCV002371856 RCV001775075 RCV004541210
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269554.1:p.Glu317Lys
CA018878
NM_001282625.2:c.949G>A