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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:
CA1243684346
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.34447883_34447887delinsATGTG , CM000664.2:g.34447883_34447887delinsATGTG
GRCh38
NC_000002.11:g.34672950_34672954delinsATGTG , CM000664.1:g.34672950_34672954delinsATGTG
GRCh37
NC_000002.10:g.34526454_34526458delinsATGTG
NCBI36
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Search 100 bp 3'