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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:
CA1813410246
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.116618375_116618376delinsAT , CM000670.2:g.116618375_116618376delinsAT
GRCh38
NC_000008.10:g.117630614_117630615delinsAT , CM000670.1:g.117630614_117630615delinsAT
GRCh37
NC_000008.9:g.117699795_117699796delinsAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'