Allele Registry

Canonical Allele Identifier: PA2573097427

Gene: SYNE1 HGNC NCBI

ClinVar RCV:

RCV000291232

RCV000294567

RCV000349602

RCV000533261

RCV001088500

RCV004543024

ClinVar Variation:

283439

HGVS (amino-acid)	Matching Registered Transcripts
NP_149062.2:p.Thr2181Ile	CA4058056 NM_033071.5:c.6542C>T