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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:
CA2809771341
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211764_50211765insGCACAACTTCTAGGCAGGTGCTAC , CM000679.2:g.50211764_50211765insGCACAACTTCTAGGCAGGTGCTAC
GRCh38
NC_000017.10:g.48289125_48289126insGCACAACTTCTAGGCAGGTGCTAC , CM000679.1:g.48289125_48289126insGCACAACTTCTAGGCAGGTGCTAC
GRCh37
NC_000017.9:g.45644124_45644125insGCACAACTTCTAGGCAGGTGCTAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_934838.1:n.43-2071_43-2070insGCACAACTTCTAGGCAGGTGCTAC
Search 100 bp 5'
Search 100 bp 3'