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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827141924
Gene: ADA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1958
ClinVar RCV Id:
RCV000002035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308979.1:p.Leu169Arg
CA252002
NM_001322050.2:c.506T>G