ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825758578
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
813959
ClinVar RCV Id:
RCV001004943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Cys538Arg
CA347217368
NM_001130981.2:c.1612T>C