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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:
CA2668462479
Gene: TERC
HGNC
NCBI
Linked Data
gnomAD v4:
3-169764766-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764768del , CM000665.2:g.169764768del
GRCh38
NC_000003.11:g.169482556del , CM000665.1:g.169482556del
GRCh37
NC_000003.10:g.170965250del
NCBI36
NG_016363.1:g.5294del , LRG_347:g.5294del
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.294del , LRG_347t1:n.294del
Search 100 bp 5'
Search 100 bp 3'