ClinGen Allele Registry
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Canonical Allele Identifier:
PA179992
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Ile1298Val
CA179991
NM_001130978.2:c.3892A>G