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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:
CA1624677049
Gene: POLR1C
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.43769958_43769959delinsCA , CM000668.2:g.43769958_43769959delinsCA
GRCh38
NC_000006.11:g.43737695_43737696delinsCA , CM000668.1:g.43737695_43737696delinsCA
GRCh37
NC_000006.10:g.43845673_43845674delinsCA
NCBI36
NG_008732.1:g.4743_4744delinsCA
Transcript Alleles
HGVS
Amino-acid Change
NM_001318876.2:c.945+240687_945+240688delinsCA
NP_001305805.1:n.945+240687_945+240688delinsCA
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