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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:
CA2229914418
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68736944_68736945delinsAC , CM000678.2:g.68736944_68736945delinsAC
GRCh38
NC_000016.9:g.68770847_68770848delinsAC , CM000678.1:g.68770847_68770848delinsAC
GRCh37
NC_000016.8:g.67328348_67328349delinsAC
NCBI36
NG_008021.1:g.4653_4654delinsAC , LRG_301:g.4653_4654delinsAC
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