ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825753045
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000554512
RCV001508442
RCV001834796
ClinVar Variation:
471314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Arg1698Cys
CA1707255
NM_001130978.2:c.5092C>T