ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825753286
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289244
ClinVar RCV Id:
RCV000285614
RCV000647999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Cys1905Phe
CA10606384
NM_001130978.2:c.5714G>T