Canonical Allele Identifier: PA2825694228
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284003
ClinVar RCV Id: RCV000313635 RCV000666376 RCV000701610 RCV002494839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Pro1021Leu
CA1706432
NM_001130455.2:c.3062C>T