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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:
CA2122986156
Gene: TRD-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2034623405
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.22468699del , CM000676.2:g.22468699del
GRCh38
NC_000014.8:g.22937691del , CM000676.1:g.22937691del
GRCh37
NC_000014.7:g.22007531del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943593.1:n.776-3410del
XR_943594.1:n.541-3410del
XR_943595.1:n.541-3410del
XR_943596.1:n.776-3410del
NR_148361.1:n.225+12545del
XR_001750629.1:n.292-3410del
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