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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:
CA1677170021
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668698_160668701delinsGTAA , CM000668.2:g.160668698_160668701delinsGTAA
GRCh38
NC_000006.11:g.161089730_161089733delinsGTAA , CM000668.1:g.161089730_161089733delinsGTAA
GRCh37
NC_000006.10:g.161009720_161009723delinsGTAA
NCBI36
NG_016147.1:g.2675_2678delinsTTAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2328_115-2325delinsTTAC
Search 100 bp 5'
Search 100 bp 3'