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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:
CA2317517826
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1102132_1102133delinsAC , CM000681.2:g.1102132_1102133delinsAC
GRCh38
NC_000019.9:g.1102131_1102132delinsAC , CM000681.1:g.1102131_1102132delinsAC
GRCh37
NC_000019.8:g.1053131_1053132delinsAC
NCBI36
NG_050621.1:g.3207_3208delinsAC
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