ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099166
Gene: ADAMTS13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_620594.1:p.Thr196Ile
NM_139025.5:c.587C>T