ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916071952
Gene: ADAMTS13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620596.2:p.Arg692Cys
CA117769
NM_139027.6:c.2074C>T