Canonical Allele Identifier: PA179992
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6667
ClinVar RCV Id: RCV000007049 RCV000153183 RCV000509353 RCV000658868 RCV000681611 RCV001563901 RCV004547461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Ile1298Val
CA179991
NM_001130978.2:c.3892A>G