ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830272306
Gene: ADAMTS13
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006164
ClinVar Variation:
5808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620595.1:p.Cys1126Tyr
CA117766
NM_139026.6:c.3377G>A