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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:
CA118715
Gene: TERC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7325
ClinVar RCV Id:
RCV000007749
RCV000032556
RCV001214506
dbSNP Id:
rs199422270
MyVariant Identifiers:
chr3:g.169482736_169482739del (hg19)
chr3:g.169764948_169764951del (hg38)
PubMed:
PMID:12090986
PMID:20301779
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764950_169764953del , CM000665.2:g.169764950_169764953del
GRCh38
NC_000003.11:g.169482738_169482741del , CM000665.1:g.169482738_169482741del
GRCh37
NC_000003.10:g.170965432_170965435del
NCBI36
NG_016363.1:g.5110_5113del , LRG_347:g.5110_5113del
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.110_113del , LRG_347t1:n.110_113del
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