ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825756590
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283977
ClinVar RCV Id:
RCV000271598
RCV000356959
RCV000366269
RCV000695150
RCV001271793
RCV002487214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Arg825Gln
CA1706183
NM_001130980.2:c.2474G>A