Allele Registry

Canonical Allele Identifier: PA2825763840

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000178627

RCV000813699

RCV001826908

RCV003165373

ClinVar Variation:

197566

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Gln1780Glu	CA245812 NM_001130983.2:c.5338C>G