Canonical Allele Identifier: PA2825767047
Gene: DYSF HGNC NCBI
ClinVar RCV:
RCV000007064
ClinVar Variation:
6677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Asp643Tyr
CA253909
NM_001130985.2:c.1927G>T