Canonical Allele Identifier: PA645477789
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 242527
ClinVar RCV Id: RCV000648020 RCV000672247 RCV003469178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Arg1732Gln
CA351294
NM_001130987.2:c.5195G>A