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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:
CA2189605853
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.78623006_78623010delinsGTTTC , CM000677.2:g.78623006_78623010delinsGTTTC
GRCh38
NC_000015.9:g.78915348_78915352delinsGTTTC , CM000677.1:g.78915348_78915352delinsGTTTC
GRCh37
NC_000015.8:g.76702403_76702407delinsGTTTC
NCBI36
NG_016143.1:g.3286_3290delinsGAAAC
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