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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:
PA2825244789
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17992
ClinVar RCV Id:
RCV000019608
RCV000169508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002235.1:p.Ser77Phe
CA127738
NM_001002235.3:c.230C>T