Canonical Allele Identifier: PA2825763942
Gene: DYSF HGNC NCBI
ClinVar RCV:
RCV000494731
ClinVar Variation:
430739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Gly1864Asp
CA347223179
NM_001130983.2:c.5591G>A