ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825762780
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497312
ClinVar RCV Id:
RCV000596941
RCV000817716
RCV001829634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Arg820Gln
CA1706192
NM_001130983.2:c.2459G>A