Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA916071844

Gene: ADAMTS13 HGNC NCBI

Linked Data

ClinVar Variation Id: 5801

ClinVar RCV Id: RCV000006157 RCV001507764

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_620596.2:p.Thr196Ile	CA117748 NM_139027.6:c.587C>T