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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:
CA343771
Gene: TERC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39300
ClinVar RCV Id:
RCV000032582
dbSNP Id:
rs199422266
MyVariant Identifiers:
chr3:g.169482770del (hg19)
chr3:g.169764982del (hg38)
PubMed:
PMID:20301779
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764982del , CM000665.2:g.169764982del
GRCh38
NC_000003.11:g.169482770del , CM000665.1:g.169482770del
GRCh37
NC_000003.10:g.170965464del
NCBI36
NG_016363.1:g.5079del , LRG_347:g.5079del
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.79del , LRG_347t1:n.79del
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