ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827442923
Gene: GTF2E2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335282.1:p.Ala150Pro
CA10576099
NM_001348353.1:c.448G>C