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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:
CA2208348652
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.12614373_12614375delinsAGT , CM000678.2:g.12614373_12614375delinsAGT
GRCh38
NC_000016.9:g.12708230_12708232delinsAGT , CM000678.1:g.12708230_12708232delinsAGT
GRCh37
NC_000016.8:g.12615731_12615733delinsAGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'