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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:
PA2827301733
Gene: AICDA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379250
ClinVar RCV Id:
RCV000432589
RCV000808983
RCV003912638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317272.1:p.Arg112Cys
CA16606379
NM_001330343.2:c.334C>T