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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:
CA1619145115
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31423507_31423517delinsAGGACACAGAC , CM000668.2:g.31423507_31423517delinsAGGACACAGAC
GRCh38
NC_000006.11:g.31391284_31391294delinsAGGACACAGAC , CM000668.1:g.31391284_31391294delinsAGGACACAGAC
GRCh37
NC_000006.10:g.31499263_31499273delinsAGGACACAGAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'