ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107493
Gene: IRF6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3416
ClinVar RCV Id:
RCV000003585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006138.1:p.Ala2Val
CA252758
NM_006147.4:c.5C>T