ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477695
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197004
ClinVar RCV Id:
RCV000658869
RCV000691904
RCV001329091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Gln1341Glu
CA244881
NM_001130987.2:c.4021C>G