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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:
CA2573332731
Gene: TRIOBP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.37715764_37715935del , CM000684.2:g.37715764_37715935del
GRCh38
NC_000022.10:g.38111771_38111942del , CM000684.1:g.38111771_38111942del
GRCh37
NC_000022.9:g.36441717_36441888del
NCBI36
NG_012857.1:g.23777_23948del
Transcript Alleles
HGVS
Amino-acid change
ENST00000644935.1:c.458_628+1del
ENST00000344404.10:c.256_*111+1del
ENST00000406386.7:c.458_628+1del
ENST00000455236.4:c.1415_1585+1del
ENST00000492485.5:n.392_562+1del
NM_001039141.2:c.458_628+1del
NM_001039141.3:c.458_628+1del
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