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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
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Canonical Allele Identifier:
CA2343272627
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.55151753_55151770delinsAGACATGGAGTCACTTTC , CM000681.2:g.55151753_55151770delinsAGACATGGAGTCACTTTC
GRCh38
NC_000019.9:g.55663121_55663138delinsAGACATGGAGTCACTTTC , CM000681.1:g.55663121_55663138delinsAGACATGGAGTCACTTTC
GRCh37
NC_000019.8:g.60354933_60354950delinsAGACATGGAGTCACTTTC
NCBI36
NG_007866.2:g.10963_10980delinsGAAAGTGACTCCATGTCT , LRG_432:g.10963_10980delinsGAAAGTGACTCCATGTCT
NG_011829.2:g.2469_2486delinsGAAAGTGACTCCATGTCT
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