Allele Registry

Canonical Allele Identifier: PA2829467222

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000313635

RCV000666376

RCV000701610

RCV002494839

ClinVar Variation:

284003

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Pro1020Leu	CA1706432 NM_003494.4:c.3059C>T