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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:
CA1419572652
Gene: TERC
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764812_169764813delinsAG , CM000665.2:g.169764812_169764813delinsAG
GRCh38
NC_000003.11:g.169482600_169482601delinsAG , CM000665.1:g.169482600_169482601delinsAG
GRCh37
NC_000003.10:g.170965294_170965295delinsAG
NCBI36
NG_016363.1:g.5248_5249delinsCT , LRG_347:g.5248_5249delinsCT
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.248_249delinsCT , LRG_347t1:n.248_249delinsCT
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