ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827442939
Gene: GTF2E2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225841
ClinVar RCV Id:
RCV000211077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335282.1:p.Asp187Tyr
CA10576100
NM_001348353.1:c.559G>T