Allele Registry

Canonical Allele Identifier: PA2829467851

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV001203031

RCV001828630

RCV003145373

ClinVar Variation:

934608

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Pro1400His	CA49779936 NM_003494.4:c.4199C>A