ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752743
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336971
ClinVar RCV Id:
RCV000313317
RCV000370350
RCV000517870
RCV000727268
RCV001274832
RCV001083961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Pro1400Ala
CA1706942
NM_001130978.2:c.4198C>G