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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:
CA1616588229
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24648102_24648103delinsAT , CM000668.2:g.24648102_24648103delinsAT
GRCh38
NC_000006.11:g.24648330_24648331delinsAT , CM000668.1:g.24648330_24648331delinsAT
GRCh37
NC_000006.10:g.24756309_24756310delinsAT
NCBI36
NG_016206.1:g.3053_3054delinsAT
NG_052787.1:g.23785_23786delinsAT
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