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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:
CA2067972584
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121625126_121625128delinsCTG , CM000674.2:g.121625126_121625128delinsCTG
GRCh38
NC_000012.11:g.122063031_122063033delinsCTG , CM000674.1:g.122063031_122063033delinsCTG
GRCh37
NC_000012.10:g.120547414_120547416delinsCTG
NCBI36
NG_007500.1:g.3557_3559delinsCTG , LRG_93:g.3557_3559delinsCTG
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