ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825755804
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289471
ClinVar RCV Id:
RCV000536797
RCV000711545
RCV001835762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Val42Met
CA1705230
NM_001130980.2:c.124G>A