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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:
CA1230735211
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.244227177_244227179delinsCCT , CM000663.2:g.244227177_244227179delinsCCT
GRCh38
NC_000001.10:g.244390479_244390481delinsCCT , CM000663.1:g.244390479_244390481delinsCCT
GRCh37
NC_000001.9:g.242457102_242457104delinsCCT
NCBI36
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