ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658806784
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497494
ClinVar RCV Id:
RCV000593115
RCV000647988
RCV002532373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Arg865Trp
CA1706231
NM_001130987.2:c.2593C>T