ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139748342
Gene: ADAMTS13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620596.2:p.Val849Ile
CA200936055
NM_139027.6:c.2545G>A