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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:
PA2825656395
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17986
ClinVar RCV Id:
RCV000512622
RCV000019600
RCV000019597
RCV000019598
RCV000019599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121175.1:p.Gly139Ser
CA127734
NM_001127703.2:c.415G>A