Canonical Allele Identifier: PA2825751498
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94358
ClinVar RCV Id: RCV000595897 RCV000790709 RCV001237531 RCV001814050 RCV003317083 RCV003466990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Thr252Met
CA222210
NM_001130978.2:c.755C>T