ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752002
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195749
ClinVar RCV Id:
RCV000176395
RCV000765697
RCV001085145
RCV001271790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Gly761Ser
CA242326
NM_001130978.2:c.2281G>A