ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825770095
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000591033
RCV002491213
RCV003574784
ClinVar Variation:
500922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Cys1348Arg
CA1706900
NM_001130986.2:c.4042T>C