ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645431257
Gene: POLR1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056240.2:p.Glu1330del
CA16617769
NM_015425.6:c.3988_3990del