Allele Registry

Canonical Allele Identifier: PA2825759126

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000278825

RCV000373211

RCV001140034

ClinVar Variation:

336964

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Thr1053Ile	CA1706444 NM_001130981.2:c.3158C>T