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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:
CA2189605530
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.78622275_78622276delinsAC , CM000677.2:g.78622275_78622276delinsAC
GRCh38
NC_000015.9:g.78914617_78914618delinsAC , CM000677.1:g.78914617_78914618delinsAC
GRCh37
NC_000015.8:g.76701672_76701673delinsAC
NCBI36
NG_016143.1:g.4020_4021delinsGT
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