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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:
CA1728106669
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388343_97388348delinsGCAGCA , CM000669.2:g.97388343_97388348delinsGCAGCA
GRCh38
NC_000007.13:g.97017655_97017660delinsGCAGCA , CM000669.1:g.97017655_97017660delinsGCAGCA
GRCh37
NC_000007.12:g.96855591_96855596delinsGCAGCA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745293.1:n.127-59701_127-59696delinsTGCTGC
Search 100 bp 5'
Search 100 bp 3'