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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:
CA566379613
Gene: TSBP1-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1486448192
gnomAD v2:
6-32223100-G-GTCC
gnomAD v3:
6-32255323-G-GTCC
gnomAD v4:
6-32255323-G-GTCC
MyVariant Identifiers:
chr6:g.32223100_32223101insTCC (hg19)
chr6:g.32255323_32255324insTCC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32255325_32255327dup , CM000668.2:g.32255325_32255327dup
GRCh38
NC_000006.11:g.32223102_32223104dup , CM000668.1:g.32223102_32223104dup
GRCh37
NC_000006.10:g.32331080_32331082dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_136244.1:n.153_155dup
NR_136245.1:n.153_155dup
NR_136246.1:n.153_155dup
Search 100 bp 5'
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