ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829466293
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500618
ClinVar RCV Id:
RCV000592160
RCV000807941
RCV001276724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Ser423Thr
CA1705707
NM_003494.4:c.1268G>C