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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:
CA2299336779
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.43292372_43292376delinsAAGAC , CM000680.2:g.43292372_43292376delinsAAGAC
GRCh38
NC_000018.9:g.40872337_40872341delinsAAGAC , CM000680.1:g.40872337_40872341delinsAAGAC
GRCh37
NC_000018.8:g.39126335_39126339delinsAAGAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'