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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:
CA2138244416
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54912356_54912358delinsACC , CM000676.2:g.54912356_54912358delinsACC
GRCh38
NC_000014.8:g.55379074_55379076delinsACC , CM000676.1:g.55379074_55379076delinsACC
GRCh37
NC_000014.7:g.54448824_54448826delinsACC
NCBI36
Search 100 bp 5'
Search 100 bp 3'