Canonical Allele Identifier: PA915974139
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286443
ClinVar RCV Id: RCV000331066 RCV000820404 RCV001828229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Thr1397Met
CA1706904
NM_001130982.2:c.4190C>T