ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825753365
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000596899
ClinVar Variation:
501582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Cys1992Arg
CA347226529
NM_001130978.2:c.5974T>C