Canonical Allele Identifier: PA2825766179
Gene: DYSF HGNC NCBI
ClinVar RCV:
RCV000494731
ClinVar Variation:
430739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124456.1:p.Gly1850Asp
CA347223179
NM_001130984.2:c.5549G>A