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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:
CA2259636235
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40618851_40618853delinsAAC , CM000679.2:g.40618851_40618853delinsAAC
GRCh38
NC_000017.10:g.38775103_38775105delinsAAC , CM000679.1:g.38775103_38775105delinsAAC
GRCh37
NC_000017.9:g.36028629_36028631delinsAAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'