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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:
CA2506993813
Gene: TAPBPL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6471483dup , CM000674.2:g.6471483dup
GRCh38
NC_000012.11:g.6580649dup , CM000674.1:g.6580649dup
GRCh37
NC_000012.10:g.6450910dup
NCBI36
NG_042188.1:g.4418dup
NG_042188.2:g.4418dup
Transcript Alleles
HGVS
Amino-acid Change
XR_001748777.2:n.2750dup
XR_001748778.2:n.2747dup
Search 100 bp 5'
Search 100 bp 3'