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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:
CA915941620
Gene: TERC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639928
ClinVar RCV Id:
RCV000792847
dbSNP Id:
rs1577384138
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764721_169764726dup , CM000665.2:g.169764721_169764726dup
GRCh38
NC_000003.11:g.169482509_169482514dup , CM000665.1:g.169482509_169482514dup
GRCh37
NC_000003.10:g.170965203_170965208dup
NCBI36
NG_016363.1:g.5343_5348dup , LRG_347:g.5343_5348dup
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.343_348dup , LRG_347t1:n.343_348dup
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