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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
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Canonical Allele Identifier:
CA1419636271
Gene: TERC
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764668_169764670delinsCGG , CM000665.2:g.169764668_169764670delinsCGG
GRCh38
NC_000003.11:g.169482456_169482458delinsCGG , CM000665.1:g.169482456_169482458delinsCGG
GRCh37
NC_000003.10:g.170965150_170965152delinsCGG
NCBI36
NG_016363.1:g.5391_5393delinsCCG , LRG_347:g.5391_5393delinsCCG
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.391_393delinsCCG , LRG_347t1:n.391_393delinsCCG
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