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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:
CA1715429970
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147099_69147100delinsGT , CM000669.2:g.69147099_69147100delinsGT
GRCh38
NC_000007.13:g.68612086_68612087delinsGT , CM000669.1:g.68612086_68612087delinsGT
GRCh37
NC_000007.12:g.68250022_68250023delinsGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-974_88-973delinsAC
Search 100 bp 5'
Search 100 bp 3'