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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:
CA2696808
Gene: TERC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1365229
ClinVar RCV Id:
RCV001929741
dbSNP Id:
rs769251104
ExAC:
3:169482647 A / AG
gnomAD v2:
3-169482647-A-AG
gnomAD v4:
3-169764859-A-AG
MyVariant Identifiers:
chr3:g.169482647_169482648insG (hg19)
chr3:g.169764859_169764860insG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764863dup , CM000665.2:g.169764863dup
GRCh38
NC_000003.11:g.169482651dup , CM000665.1:g.169482651dup
GRCh37
NC_000003.10:g.170965345dup
NCBI36
NG_016363.1:g.5201dup , LRG_347:g.5201dup
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.201dup , LRG_347t1:n.201dup
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