ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825770782
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287816
ClinVar RCV Id:
RCV000356385
RCV000487973
RCV001085395
RCV000675073
RCV001449928
RCV003448906
RCV004549599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Arg1987Gln
CA1707599
NM_001130986.2:c.5960G>A