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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:
CA1624673498
Gene: POLR1C
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.43762006_43762007delinsTA , CM000668.2:g.43762006_43762007delinsTA
GRCh38
NC_000006.11:g.43729743_43729744delinsTA , CM000668.1:g.43729743_43729744delinsTA
GRCh37
NC_000006.10:g.43837721_43837722delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_001318876.2:c.945+232735_945+232736delinsTA
NP_001305805.1:n.945+232735_945+232736delinsTA
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