Allele Registry

Canonical Allele Identifier: PA2829468652

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000647987

RCV001276860

RCV003144428

ClinVar Variation:

538624

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg1749His	CA1707346 NM_003494.4:c.5246G>A