ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741894202
Gene: POLR2E
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002686.3:p.Pro77Ala
CA403037583
NM_002695.5:c.229C>G