ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825757583
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288830
ClinVar RCV Id:
RCV000370944
RCV002518057
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Cys1695Tyr
CA10606239
NM_001130980.2:c.5084G>A