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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:
CA2518253554
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.233916393_233916394insT , CM000664.2:g.233916393_233916394insT
GRCh38
NC_000002.11:g.234825038_234825039insT , CM000664.1:g.234825038_234825039insT
GRCh37
NC_000002.10:g.234489777_234489778insT
NCBI36
Search 100 bp 5'
Search 100 bp 3'