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: PA2741941739

Gene: ADAMTS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2654808

ClinVar RCV Id: RCV003435039 RCV003954189

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055058.2:p.Arg565Gln	CA2956879 NM_014243.3:c.1694G>A