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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:
PA2825656099
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444042
ClinVar RCV Id:
RCV000512629
RCV000728262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121174.1:p.Glu146Lys
CA7327497
NM_001127702.2:c.436G>A