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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:
CA1677170024
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668704_160668710delinsATGGTGT , CM000668.2:g.160668704_160668710delinsATGGTGT
GRCh38
NC_000006.11:g.161089736_161089742delinsATGGTGT , CM000668.1:g.161089736_161089742delinsATGGTGT
GRCh37
NC_000006.10:g.161009726_161009732delinsATGGTGT
NCBI36
NG_016147.1:g.2666_2672delinsACACCAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2337_115-2331delinsACACCAT
Search 100 bp 5'
Search 100 bp 3'