Canonical Allele Identifier: PA2825767947
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94321
ClinVar RCV Id: RCV000080287 RCV000177998 RCV000536105 RCV003460751 RCV003993797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Gly1436Asp
CA222164
NM_001130985.2:c.4307G>A