ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825748659
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000725163
RCV001085921
RCV001276862
RCV003939934
RCV004021072
ClinVar Variation:
281104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Arg1782Trp
CA1707403
NM_001130976.2:c.5344C>T