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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:
CA1496030113
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.134601436_134601437delinsAC , CM000666.2:g.134601436_134601437delinsAC
GRCh38
NC_000004.11:g.135522591_135522592delinsAC , CM000666.1:g.135522591_135522592delinsAC
GRCh37
NC_000004.10:g.135742041_135742042delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939212.1:n.410+14077_410+14078delinsAC
XR_939214.1:n.392+14077_392+14078delinsAC
XR_939214.2:n.392+14077_392+14078delinsAC
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