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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:
CA2229914401
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68736938_68736940delinsAGT , CM000678.2:g.68736938_68736940delinsAGT
GRCh38
NC_000016.9:g.68770841_68770843delinsAGT , CM000678.1:g.68770841_68770843delinsAGT
GRCh37
NC_000016.8:g.67328342_67328344delinsAGT
NCBI36
NG_008021.1:g.4647_4649delinsAGT , LRG_301:g.4647_4649delinsAGT
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