Allele Registry

Canonical Allele Identifier: PA2829468633

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000374736

RCV000664874

RCV000778917

RCV001329706

RCV001563739

RCV003940011

ClinVar Variation:

285686

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Pro1739Gln	CA1707338 NM_003494.4:c.5216C>A