Allele Registry

Canonical Allele Identifier: PA2825769094

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000313593

RCV001240422

RCV004021322

ClinVar Variation:

291123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Asn412Lys	CA1705704 NM_001130986.2:c.1236C>A CA347214779 NM_001130986.2:c.1236C>G