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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
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Canonical Allele Identifier:
CA1419573160
Gene: TERC
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764947_169764951delinsAAGTC , CM000665.2:g.169764947_169764951delinsAAGTC
GRCh38
NC_000003.11:g.169482735_169482739delinsAAGTC , CM000665.1:g.169482735_169482739delinsAAGTC
GRCh37
NC_000003.10:g.170965429_170965433delinsAAGTC
NCBI36
NG_016363.1:g.5110_5114delinsGACTT , LRG_347:g.5110_5114delinsGACTT
Transcript Alleles
HGVS
Amino-acid change
NR_001566.1:n.110_114delinsGACTT , LRG_347t1:n.110_114delinsGACTT
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