ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825759099
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471294
ClinVar RCV Id:
RCV000548061
RCV001829588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Ile1033Met
CA1706423
NM_001130981.2:c.3099C>G