Canonical Allele Identifier: PA916013590
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 14485
ClinVar RCV Id: RCV000015574 RCV000057044 RCV000705473 RCV001189216 RCV004018634 RCV003993745
ClinVar Variation Id: 200963
ClinVar RCV Id: RCV000249124 RCV000725840 RCV001191556 RCV001300467 RCV003333038 RCV004528958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269554.1:p.Arg571Ser
CA017680
NM_001282625.2:c.1711_1712delinsTC
CA017694
NM_001282625.2:c.1711C>A