Allele Registry

Canonical Allele Identifier: PA2825748515

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000532679

RCV001834797

RCV004024174

ClinVar Variation:

471315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Arg1663His	CA1707257 NM_001130976.2:c.4988G>A