Allele Registry

Canonical Allele Identifier: PA2830087562

Gene: SYNE1 HGNC NCBI

ClinVar RCV:

RCV000346302

RCV000706119

RCV000725671

RCV001153336

RCV001153337

ClinVar Variation:

285472

HGVS (amino-acid)	Matching Registered Transcripts
NP_149062.2:p.Gln6348Glu	CA4054725 NM_033071.5:c.19042C>G