ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825754622
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_001124451.1:p.Arg1077Cys
CA1706459
NM_001130979.2:c.3229C>T