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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:
CA2208348641
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.12614361_12614367delinsGCAGTAA , CM000678.2:g.12614361_12614367delinsGCAGTAA
GRCh38
NC_000016.9:g.12708218_12708224delinsGCAGTAA , CM000678.1:g.12708218_12708224delinsGCAGTAA
GRCh37
NC_000016.8:g.12615719_12615725delinsGCAGTAA
NCBI36
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