ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825765618
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280068
ClinVar RCV Id:
RCV000408314
RCV000802767
RCV001804995
RCV003469216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Arg1329Trp
CA1706889
NM_001130984.2:c.3985C>T