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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
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Canonical Allele Identifier:
CA2255111842
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237164_30237165delinsTG , CM000679.2:g.30237164_30237165delinsTG
GRCh38
NC_000017.10:g.28564182_28564183delinsTG , CM000679.1:g.28564182_28564183delinsTG
GRCh37
NC_000017.9:g.25588308_25588309delinsTG
NCBI36
NG_011747.2:g.3772_3773delinsCA
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+94_165+95delinsTG
XR_001752824.1:n.280+94_280+95delinsTG
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