ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825765265
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242418
ClinVar RCV Id:
RCV000493116
RCV000555598
RCV000596380
RCV001196058
RCV003469174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Arg1025Gln
CA1706448
NM_001130984.2:c.3074G>A