ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100591
Gene: DES
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001918.3:p.Thr442Ile
NM_001927.4:c.1325C>T