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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:
CA2229914408
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68736941_68736944delinsGAGA , CM000678.2:g.68736941_68736944delinsGAGA
GRCh38
NC_000016.9:g.68770844_68770847delinsGAGA , CM000678.1:g.68770844_68770847delinsGAGA
GRCh37
NC_000016.8:g.67328345_67328348delinsGAGA
NCBI36
NG_008021.1:g.4650_4653delinsGAGA , LRG_301:g.4650_4653delinsGAGA
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