ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674612
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447285
ClinVar RCV Id:
RCV001239622
RCV000518215
RCV001834664
RCV003144306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Arg1064Cys
CA1706459
NM_001130987.2:c.3190C>T