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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:
CA1677170027
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668707_160668708delinsGT , CM000668.2:g.160668707_160668708delinsGT
GRCh38
NC_000006.11:g.161089739_161089740delinsGT , CM000668.1:g.161089739_161089740delinsGT
GRCh37
NC_000006.10:g.161009729_161009730delinsGT
NCBI36
NG_016147.1:g.2668_2669delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2335_115-2334delinsAC
Search 100 bp 5'
Search 100 bp 3'