ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825695477
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538624
ClinVar RCV Id:
RCV000647987
RCV001276860
RCV003144428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Arg1750His
CA1707346
NM_001130455.2:c.5249G>A