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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:
CA1139771378
Gene: TERC
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764634dup , CM000665.2:g.169764634dup
GRCh38
NC_000003.11:g.169482422dup , CM000665.1:g.169482422dup
GRCh37
NC_000003.10:g.170965116dup
NCBI36
NG_016363.1:g.5427dup , LRG_347:g.5427dup
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.427dup , LRG_347t1:n.427dup
Search 100 bp 5'
Search 100 bp 3'