Allele Registry

Canonical Allele Identifier: PA2829466687

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000288710

RCV000311911

RCV000383412

RCV001139894

ClinVar Variation:

290745

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Gly680Val	CA1706038 NM_003494.4:c.2039G>T