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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:
CA1139658330
Gene: TERC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
950972
ClinVar RCV Id:
RCV001222798
dbSNP Id:
rs1777964165
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764994del , CM000665.2:g.169764994del
GRCh38
NC_000003.11:g.169482782del , CM000665.1:g.169482782del
GRCh37
NC_000003.10:g.170965476del
NCBI36
NG_016363.1:g.5067del , LRG_347:g.5067del
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.67del , LRG_347t1:n.67del
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