Canonical Allele Identifier: PA645477591
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336955
ClinVar RCV Id: RCV000309668 RCV000345690 RCV001066203 RCV003144229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Ala595Val
CA1705924
NM_001130987.2:c.1784C>T