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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:
CA2556467195
Gene: TERC
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169765001del , CM000665.2:g.169765001del
GRCh38
NC_000003.11:g.169482789del , CM000665.1:g.169482789del
GRCh37
NC_000003.10:g.170965483del
NCBI36
NG_016363.1:g.5060del , LRG_347:g.5060del
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.60del , LRG_347t1:n.60del
Search 100 bp 5'
Search 100 bp 3'