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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:
CA1616588198
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24648054_24648056delinsCTG , CM000668.2:g.24648054_24648056delinsCTG
GRCh38
NC_000006.11:g.24648282_24648284delinsCTG , CM000668.1:g.24648282_24648284delinsCTG
GRCh37
NC_000006.10:g.24756261_24756263delinsCTG
NCBI36
NG_016206.1:g.3100_3102delinsCAG
NG_052787.1:g.23832_23834delinsCAG
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