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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:
CA1272746958
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.96747826_96747829delinsAAGG , CM000664.2:g.96747826_96747829delinsAAGG
GRCh38
NC_000002.11:g.97413563_97413566delinsAAGG , CM000664.1:g.97413563_97413566delinsAAGG
GRCh37
NC_000002.10:g.96777290_96777293delinsAAGG
NCBI36
Search 100 bp 5'
Search 100 bp 3'