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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:
PA150813
Gene: ADA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
120305
ClinVar RCV Id:
RCV000106386
RCV001781437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269156.1:p.Pro209Leu
CA150812
NM_001282227.2:c.626C>T