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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:
CA1677170025
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668705_160668715delinsTGGTGTTGGTG , CM000668.2:g.160668705_160668715delinsTGGTGTTGGTG
GRCh38
NC_000006.11:g.161089737_161089747delinsTGGTGTTGGTG , CM000668.1:g.161089737_161089747delinsTGGTGTTGGTG
GRCh37
NC_000006.10:g.161009727_161009737delinsTGGTGTTGGTG
NCBI36
NG_016147.1:g.2661_2671delinsCACCAACACCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2342_115-2332delinsCACCAACACCA
Search 100 bp 5'
Search 100 bp 3'