Canonical Allele Identifier: PA124099
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 14527
ClinVar RCV Id: RCV000015626 RCV000041340 RCV000057374 RCV000144868 RCV000148602 RCV000245284 RCV000755679 RCV000771143 RCV001084244 RCV001174411 RCV002467497 RCV003224100 RCV004528114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001244303.1:p.Arg532Cys
CA014882
NM_001257374.3:c.1594C>T