ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916071908
Gene: ADAMTS13
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059755
ClinVar Variation:
68803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620596.2:p.Cys508Tyr
CA219986
NM_139027.6:c.1523G>A