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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
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Canonical Allele Identifier:
CA2502512505
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.65635250_65635251insACTCTCAAAGATGTGTTCAAAGAAAACATGTATAACA , CM000664.2:g.65635250_65635251insACTCTCAAAGATGTGTTCAAAGAAAACATGTATAACA
GRCh38
NC_000002.11:g.65862384_65862385insACTCTCAAAGATGTGTTCAAAGAAAACATGTATAACA , CM000664.1:g.65862384_65862385insACTCTCAAAGATGTGTTCAAAGAAAACATGTATAACA
GRCh37
NC_000002.10:g.65715888_65715889insACTCTCAAAGATGTGTTCAAAGAAAACATGTATAACA
NCBI36
Search 100 bp 5'
Search 100 bp 3'