ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825764068
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501582
ClinVar RCV Id:
RCV000596899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Cys1993Arg
CA347226529
NM_001130983.2:c.5977T>C