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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:
CA690907400
Gene: TAPBPL
HGNC
NCBI
Linked Data
dbSNP Id:
rs1238296862
MyVariant Identifiers:
chr12:g.6580709_6580720del (hg19)
chr12:g.6471543_6471554del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6471545_6471556del , CM000674.2:g.6471545_6471556del
GRCh38
NC_000012.11:g.6580711_6580722del , CM000674.1:g.6580711_6580722del
GRCh37
NC_000012.10:g.6450972_6450983del
NCBI36
NG_042188.1:g.4346_4357del
NG_042188.2:g.4346_4357del
Transcript Alleles
HGVS
Amino-acid change
XR_001748777.2:n.2812_2823del
XR_001748778.2:n.2809_2820del
Search 100 bp 5'
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