Canonical Allele Identifier: PA2829466861
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 497312
ClinVar RCV Id: RCV000596941 RCV000817716 RCV001829634
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg819Gln
CA1706192
NM_003494.4:c.2456G>A