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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:
CA2330336299
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.28544679_28544682delinsCCCT , CM000681.2:g.28544679_28544682delinsCCCT
GRCh38
NC_000019.9:g.29035586_29035589delinsCCCT , CM000681.1:g.29035586_29035589delinsCCCT
GRCh37
NC_000019.8:g.33727426_33727429delinsCCCT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110759.1:n.657-77902_657-77899delinsAGGG
XR_243979.1:n.110-51659_110-51656delinsAGGG
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