ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915973469
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538642
ClinVar RCV Id:
RCV000648014
RCV001829805
RCV003243237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Glu573Gly
CA1705883
NM_001130982.2:c.1718A>G