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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:
CA2759342022
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764559_169764560insAGCAG , CM000665.2:g.169764559_169764560insAGCAG
GRCh38
NC_000003.11:g.169482347_169482348insAGCAG , CM000665.1:g.169482347_169482348insAGCAG
GRCh37
NC_000003.10:g.170965041_170965042insAGCAG
NCBI36
NG_016363.1:g.5502_5503insTGCTC , LRG_347:g.5502_5503insTGCTC
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