Canonical Allele Identifier: PA253912
Gene: DYSF HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Glu1755Gly
CA253911
NM_001130978.2:c.5264A>G