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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:
CA1818180980
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127094448_127094450delinsAAT , CM000670.2:g.127094448_127094450delinsAAT
GRCh38
NC_000008.10:g.128106693_128106695delinsAAT , CM000670.1:g.128106693_128106695delinsAAT
GRCh37
NC_000008.9:g.128175875_128175877delinsAAT
NCBI36
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