Canonical Allele Identifier: PA2825753992
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 282209
ClinVar RCV Id: RCV000300999 RCV000358093 RCV000711546 RCV001084088 RCV001449924 RCV001276725 RCV001820812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124451.1:p.Met482Val
CA1705737
NM_001130979.2:c.1444A>G