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: PA2827142161

Gene: ADA HGNC NCBI

Linked Data

ClinVar Variation Id: 1958

ClinVar RCV Id: RCV000002035

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308980.1:p.Leu280Arg	CA252002 NM_001322051.2:c.839T>G