ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825751928
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290745
ClinVar RCV Id:
RCV000288710
RCV000311911
RCV000383412
RCV001139894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Gly680Val
CA1706038
NM_001130978.2:c.2039G>T