Canonical Allele Identifier: PA2825762993
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_001124455.1:p.Ile1017Met
CA1706423
NM_001130983.2:c.3051C>G