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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:
CA2794418699
Gene: TAPBPL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6471419del , CM000674.2:g.6471419del
GRCh38
NC_000012.11:g.6580585del , CM000674.1:g.6580585del
GRCh37
NC_000012.10:g.6450846del
NCBI36
NG_042188.1:g.4481del
NG_042188.2:g.4481del
Transcript Alleles
HGVS
Amino-acid Change
XR_001748777.2:n.2686del
XR_001748778.2:n.2683del
Search 100 bp 5'
Search 100 bp 3'