Canonical Allele Identifier: PA104334
Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 14517
ClinVar RCV Id: RCV000015612 RCV000015613 RCV000015614 RCV000057351 RCV000041329 RCV000617932 RCV000653881 RCV001188887 RCV002221478 RCV002509159 RCV001248900
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733821.1:p.Ser573Leu
CA020299
NM_170707.4:c.1718C>T