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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:
CA2377870443
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472540_14472543delinsAATT , CM000683.2:g.14472540_14472543delinsAATT
GRCh38
NC_000021.8:g.15844861_15844864delinsAATT , CM000683.1:g.15844861_15844864delinsAATT
GRCh37
NC_000021.7:g.14766732_14766735delinsAATT
NCBI36
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