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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
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Canonical Allele Identifier:
CA2273319228
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.70882426_70882439delinsAAGAGTTTGGTTTC , CM000679.2:g.70882426_70882439delinsAAGAGTTTGGTTTC
GRCh38
NC_000017.10:g.68878567_68878580delinsAAGAGTTTGGTTTC , CM000679.1:g.68878567_68878580delinsAAGAGTTTGGTTTC
GRCh37
NC_000017.9:g.66390162_66390175delinsAAGAGTTTGGTTTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'