Canonical Allele Identifier: PA2825695467
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285686
ClinVar RCV Id: RCV000374736 RCV000664874 RCV000778917 RCV001563739 RCV001329706 RCV003940011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Pro1740Gln
CA1707338
NM_001130455.2:c.5219C>A