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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:
PA106086
Gene: AICDA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5122
ClinVar RCV Id:
RCV000005429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065712.1:p.Arg24Trp
CA117266
NM_020661.4:c.70C>T