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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:
CA87624629
Gene: TERC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
969630
ClinVar RCV Id:
RCV001245018
dbSNP Id:
rs953309807
MyVariant Identifiers:
chr3:g.169482848C>G (hg19)
chr3:g.169765060C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169765060C>G , CM000665.2:g.169765060C>G
GRCh38
NC_000003.11:g.169482848C>G , CM000665.1:g.169482848C>G
GRCh37
NC_000003.10:g.170965542C>G
NCBI36
NG_016363.1:g.5001G>C , LRG_347:g.5001G>C
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.1G>C , LRG_347t1:n.1G>C
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