Allele Registry

Canonical Allele Identifier: PA253908

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007058

RCV000681612

ClinVar Variation:

6673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Val67Asp	CA253907 NM_001130978.2:c.200_201delinsAT