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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:
CA1419572653
Gene: TERC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1018345
ClinVar RCV Id:
RCV001317629
dbSNP Id:
rs1777960875
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764814del , CM000665.2:g.169764814del
GRCh38
NC_000003.11:g.169482602del , CM000665.1:g.169482602del
GRCh37
NC_000003.10:g.170965296del
NCBI36
NG_016363.1:g.5248del , LRG_347:g.5248del
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.248del , LRG_347t1:n.248del
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