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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:
CA1202020517
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.159715563_159715567delinsACTGT , CM000663.2:g.159715563_159715567delinsACTGT
GRCh38
NC_000001.10:g.159685353_159685357delinsACTGT , CM000663.1:g.159685353_159685357delinsACTGT
GRCh37
NC_000001.9:g.157951977_157951981delinsACTGT
NCBI36
NG_013007.1:g.4023_4027delinsACAGT
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