ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915973987
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450303
ClinVar RCV Id:
RCV000523566
RCV001142639
RCV001829492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Arg1183Cys
CA1706610
NM_001130982.2:c.3547C>T