Allele Registry

Canonical Allele Identifier: PA2825750478

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000494287

RCV000672486

RCV001085319

RCV001449591

ClinVar Variation:

429430

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Pro1386Arg	CA1706944 NM_001130977.2:c.4157C>G