Canonical Allele Identifier: PA2825748798
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 538646
ClinVar RCV Id: RCV000648022 RCV001276870 RCV001311193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Arg1917Cys
CA1707548
NM_001130976.2:c.5749C>T