ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830272134
Gene: ADAMTS13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
227176
ClinVar RCV Id:
RCV000220213
RCV002054940
RCV002485379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620595.1:p.Ala701Val
CA10576747
NM_139026.6:c.2102C>T