ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825746958
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289140
ClinVar RCV Id:
RCV000288184
RCV000345514
RCV000363052
RCV000557862
RCV001273970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Val235Met
CA1705466
NM_001130976.2:c.703G>A