Canonical Allele Identifier: PA261988
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 48078
ClinVar RCV Id: RCV000041363 RCV000237089 RCV000707020 RCV001100067 RCV001100069 RCV001100063 RCV001100064 RCV001100065 RCV001098298 RCV001100066 RCV001100068 RCV001100070 RCV001102065 RCV001174245 RCV001186222 RCV002390179 RCV003231111 RCV002490579
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005563.1:p.Ala250Val
CA018573
NM_005572.4:c.749C>T