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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:
CA2770853011
Gene: POLR1C
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.43762040_43762042del , CM000668.2:g.43762040_43762042del
GRCh38
NC_000006.11:g.43729777_43729779del , CM000668.1:g.43729777_43729779del
GRCh37
NC_000006.10:g.43837755_43837757del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_001318876.2:c.945+232769_945+232771del
NP_001305805.1:n.945+232769_945+232771del
Search 100 bp 5'
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