Canonical Allele Identifier: PA2825695672
Gene: DYSF HGNC NCBI
ClinVar RCV:
RCV000494731
ClinVar Variation:
430739
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Gly1843Asp
CA347223179
NM_001130455.2:c.5528G>A