Canonical Allele Identifier: PA2825759350
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 452908
ClinVar RCV Id: RCV000765698 RCV000727399 RCV001485096 RCV001563734 RCV001563735 RCV001272834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Pro1231Leu
CA1706667
NM_001130981.2:c.3692C>T