Canonical Allele Identifier: PA2825751480
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 198495
ClinVar RCV Id: RCV000179859 RCV000984257 RCV001852238 RCV002265663 RCV003468872
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Gly234Glu
CA275400
NM_001130978.2:c.701G>A