ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477799
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285686
ClinVar RCV Id:
RCV000374736
RCV000664874
RCV000778917
RCV001563739
RCV001329706
RCV003940011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Pro1778Gln
CA1707338
NM_001130987.2:c.5333C>A