Canonical Allele Identifier: PA2825694834
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 501769
ClinVar RCV Id: RCV000593511 RCV002532619 RCV002532620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Asn1380Lys
CA1706915
NM_001130455.2:c.4140C>A
CA347228802
NM_001130455.2:c.4140C>G