Allele Registry

Canonical Allele Identifier: PA2830087436

Gene: SYNE1 HGNC NCBI

ClinVar RCV:

RCV000593289

RCV000797744

ClinVar Variation:

502587

HGVS (amino-acid)	Matching Registered Transcripts
NP_149062.2:p.Gln6239His	CA4054814 NM_033071.5:c.18717G>T CA366089796 NM_033071.5:c.18717G>C