Canonical Allele Identifier: PA2825770283
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94327
ClinVar RCV Id: RCV000193503 RCV000560015 RCV001271544 RCV001719835 RCV003398673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Lys1513Thr
CA207041
NM_001130986.2:c.4538A>C