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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:
CA1168547964
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.56385036_56385037delinsCA , CM000663.2:g.56385036_56385037delinsCA
GRCh38
NC_000001.10:g.56850708_56850709delinsCA , CM000663.1:g.56850708_56850709delinsCA
GRCh37
NC_000001.9:g.56623296_56623297delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000641109.1:c.759+93849_759+93850delinsTG
ENSP00000493138.1:n.759+93849_759+93850delinsTG
ENST00000641346.1:c.366+15057_366+15058delinsTG
ENST00000641415.1:c.192+98226_192+98227delinsTG
ENST00000641494.1:c.378+98226_378+98227delinsTG
ENST00000642129.1:c.768+98226_768+98227delinsTG
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