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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:
CA1616588426
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24648338_24648340delinsCTG , CM000668.2:g.24648338_24648340delinsCTG
GRCh38
NC_000006.11:g.24648566_24648568delinsCTG , CM000668.1:g.24648566_24648568delinsCTG
GRCh37
NC_000006.10:g.24756545_24756547delinsCTG
NCBI36
NG_016206.1:g.2816_2818delinsCAG
NG_052787.1:g.23548_23550delinsCAG
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