ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825768398
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538643
ClinVar RCV Id:
RCV000648015
RCV001276864
RCV002222581
RCV003144430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Thr1849Met
CA1707445
NM_001130985.2:c.5546C>T