ClinGen Allele Registry
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Canonical Allele Identifier:
PA915973488
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94278
ClinVar RCV Id:
RCV000080241
RCV000984167
RCV001384924
RCV003460749
RCV004549502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Arg587Trp
CA222133
NM_001130982.2:c.1759C>T