Canonical Allele Identifier: PA2825769628
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284254
ClinVar RCV Id: RCV000262612 RCV000725415 RCV000763505 RCV000791498 RCV003401245 RCV003469231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Arg946Trp
CA1706331
NM_001130986.2:c.2836C>T