ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825760533
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198494
ClinVar RCV Id:
RCV000656845
RCV000706741
RCV001276722
RCV001336579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Asn268Thr
CA247174
NM_001130982.2:c.803A>C