Canonical Allele Identifier: PA2825764018
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284822
ClinVar RCV Id: RCV000262181 RCV000648008 RCV001276869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Asp1941Glu
CA1707524
NM_001130983.2:c.5823T>G
CA347225417
NM_001130983.2:c.5823T>A