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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:
PA107801
Gene: IRF6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3422
ClinVar RCV Id:
RCV000003591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006138.1:p.Pro396Ser
CA252765
NM_006147.4:c.1186C>T