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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:
CA2189605526
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.78622272_78622276delinsACCAC , CM000677.2:g.78622272_78622276delinsACCAC
GRCh38
NC_000015.9:g.78914614_78914618delinsACCAC , CM000677.1:g.78914614_78914618delinsACCAC
GRCh37
NC_000015.8:g.76701669_76701673delinsACCAC
NCBI36
NG_016143.1:g.4020_4024delinsGTGGT
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