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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573253100
Gene: POLR3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1381728
ClinVar RCV Id:
RCV001922043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008986.2:p.Ile579dup
CA2573145780
NM_007055.4:c.1736_1738dup