Canonical Allele Identifier: PA2825770082
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1505069
ClinVar RCV Id: RCV002047961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Met1331Ile
CA347228433
NM_001130986.2:c.3993G>A
CA347228434
NM_001130986.2:c.3993G>C
CA347228435
NM_001130986.2:c.3993G>T