Allele Registry

Canonical Allele Identifier: PA645477613

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000725234

RCV001087666

RCV001271785

ClinVar Variation:

283228

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Ala716Val	CA1706065 NM_001130987.2:c.2147C>T