Allele Registry

Canonical Allele Identifier: PA2573097158

Gene: SYNE1 HGNC NCBI

ClinVar RCV:

RCV000174412

RCV001237264

ClinVar Variation:

194125

HGVS (amino-acid)	Matching Registered Transcripts
NP_149062.2:p.Trp333Arg	CA239951 NM_033071.5:c.997T>C CA366144521 NM_033071.5:c.997T>A