Canonical Allele Identifier: PA915973846
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471294
ClinVar RCV Id: RCV000548061 RCV001829588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Ile1048Met
CA1706423
NM_001130982.2:c.3144C>G