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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:
PA2828823422
Gene: CIITA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011439
ClinVar RCV Id:
RCV001309244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366262.1:p.Thr165Asn
CA7899788
NM_001379333.1:c.494C>A