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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:
CA1912105207
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.56579458_56579459delinsTA , CM000672.2:g.56579458_56579459delinsTA
GRCh38
NC_000010.10:g.58339218_58339219delinsTA , CM000672.1:g.58339218_58339219delinsTA
GRCh37
NC_000010.9:g.58009224_58009225delinsTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'