ClinGen Allele Registry
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Canonical Allele Identifier:
PA916071854
Gene: ADAMTS13
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006174
ClinVar Variation:
5818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620596.2:p.Ala250Val
CA117785
NM_139027.6:c.749C>T