Allele Registry

Canonical Allele Identifier: PA2829469201

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000533199

RCV001755866

RCV001834801

ClinVar Variation:

471324

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Arg2044Trp	CA1707654 NM_003494.4:c.6130C>T