ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830272052
Gene: ADAMTS13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68805
ClinVar RCV Id:
RCV000059757
RCV000852051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620595.1:p.Ala565Val
CA219992
NM_139026.6:c.1694C>T