ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825767597
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287474
ClinVar RCV Id:
RCV000383544
RCV001085324
RCV001276442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Arg1115Cys
CA1706529
NM_001130985.2:c.3343C>T