ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825695833
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000648022
RCV001276870
RCV001311193
ClinVar Variation:
538646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Arg1932Cys
CA1707548
NM_001130455.2:c.5794C>T