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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:
CA1139771376
Gene: TERC
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764633_169764634insCAGT , CM000665.2:g.169764633_169764634insCAGT
GRCh38
NC_000003.11:g.169482421_169482422insCAGT , CM000665.1:g.169482421_169482422insCAGT
GRCh37
NC_000003.10:g.170965115_170965116insCAGT
NCBI36
NG_016363.1:g.5429_5430insTGAC , LRG_347:g.5429_5430insTGAC
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.429_430insTGAC , LRG_347t1:n.429_430insTGAC
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