ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825693664
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283484
ClinVar RCV Id:
RCV000348203
RCV001466761
RCV001823130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Gly654Ser
CA1706026
NM_001130455.2:c.1960G>A