Canonical Allele Identifier: PA2825749604
Gene: DYSF HGNC NCBI
ClinVar RCV:
RCV000007064
ClinVar Variation:
6677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Asp611Tyr
CA253909
NM_001130977.2:c.1831G>T