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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:
CA1419572654
Gene: TERC
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764815_169764816delinsCG , CM000665.2:g.169764815_169764816delinsCG
GRCh38
NC_000003.11:g.169482603_169482604delinsCG , CM000665.1:g.169482603_169482604delinsCG
GRCh37
NC_000003.10:g.170965297_170965298delinsCG
NCBI36
NG_016363.1:g.5245_5246delinsCG , LRG_347:g.5245_5246delinsCG
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.245_246delinsCG , LRG_347t1:n.245_246delinsCG
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