Allele Registry

Canonical Allele Identifier: PA2825747574

Gene: DYSF HGNC NCBI

ClinVar Allele:

488918

ClinVar RCV:

RCV000593115

RCV000647988

RCV002532373

ClinVar Variation:

497494

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Arg833Trp	CA1706231 NM_001130976.2:c.2497C>T