Canonical Allele Identifier: PA2826443035
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 48076
ClinVar RCV Id: RCV000041361 RCV000182361 RCV000157293 RCV000620828 RCV000770763 RCV000801882 RCV001174247 RCV001258043 RCV001798224
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001244303.1:p.Ala130Val
CA018498
NM_001257374.3:c.389C>T