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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:
PA325649
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17961
ClinVar RCV Id:
RCV000019561
RCV000151833
RCV000148879
RCV000622899
RCV000727618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121179.1:p.Arg247Cys
CA325638
NM_001127707.2:c.739C>T
CA353866
NM_001127707.2:c.[739C>T;187C>T]