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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:
CA2739277856
Gene: TERC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2787205
ClinVar RCV Id:
RCV003614348
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764829dup , CM000665.2:g.169764829dup
GRCh38
NC_000003.11:g.169482617dup , CM000665.1:g.169482617dup
GRCh37
NC_000003.10:g.170965311dup
NCBI36
NG_016363.1:g.5232dup , LRG_347:g.5232dup
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.232dup , LRG_347t1:n.232dup
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