ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825749733
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_001124449.1:p.Gly747Ser
CA242326
NM_001130977.2:c.2239G>A