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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:
CA2200879465
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.172017_172018delinsAC , CM000678.2:g.172017_172018delinsAC
GRCh38
NC_000016.9:g.222016_222017delinsAC , CM000678.1:g.222016_222017delinsAC
GRCh37
NC_000016.8:g.162016_162017delinsAC
NCBI36
NG_000006.1:g.32880_32881delinsAC
NG_059186.1:g.367_368delinsAC
NG_059271.1:g.4171_4172delinsAC
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