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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:
CA2049072548
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.80069366_80069367delinsAC , CM000674.2:g.80069366_80069367delinsAC
GRCh38
NC_000012.11:g.80463146_80463147delinsAC , CM000674.1:g.80463146_80463147delinsAC
GRCh37
NC_000012.10:g.78987277_78987278delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_945140.1:n.456+8184_456+8185delinsAC
XR_945141.1:n.1758+8184_1758+8185delinsAC
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