ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580396062
Gene: POLR1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2123333
ClinVar RCV Id:
RCV003055025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056240.2:p.Ser1546Phe
CA347545533
NM_015425.6:c.4637C>T