ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829467928
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288624
ClinVar RCV Id:
RCV000358891
RCV001140902
RCV001833383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1423Cys
CA1706966
NM_003494.4:c.4267C>T