ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825759150
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000518215
RCV001239622
RCV001834664
RCV003144306
ClinVar Variation:
447285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Arg1063Cys
CA1706459
NM_001130981.2:c.3187C>T