ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825765240
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94300
ClinVar RCV Id:
RCV000080265
RCV000526480
RCV001276438
RCV001699117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Arg1009Gln
CA147743
NM_001130984.2:c.3026G>A