ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477611
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286177
ClinVar RCV Id:
RCV000329065
RCV000559041
RCV000725802
RCV004021194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Arg702Trp
CA1706039
NM_001130987.2:c.2104C>T