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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:
PA274044
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217816
ClinVar RCV Id:
RCV000201863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001121173.1:p.Tyr184Ter