ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829468531
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1697His
CA1707289
NM_003494.4:c.5090G>A