ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825763646
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94329
ClinVar RCV Id:
RCV000311686
RCV000406762
RCV000711563
RCV001085629
RCV002271403
RCV003925057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Arg1603His
CA222172
NM_001130983.2:c.4808G>A