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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:
CA1213242373
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186671476_186671478delinsCTT , CM000663.2:g.186671476_186671478delinsCTT
GRCh38
NC_000001.10:g.186640608_186640610delinsCTT , CM000663.1:g.186640608_186640610delinsCTT
GRCh37
NC_000001.9:g.184907231_184907233delinsCTT
NCBI36
NG_028206.2:g.13950_13952delinsAAG
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