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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:
CA1657688797
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.117450024_117450026delinsCTT , CM000668.2:g.117450024_117450026delinsCTT
GRCh38
NC_000006.11:g.117771187_117771189delinsCTT , CM000668.1:g.117771187_117771189delinsCTT
GRCh37
NC_000006.10:g.117877880_117877882delinsCTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000467125.1:c.547+116828_547+116830delinsAAG
ENSP00000487717.1:n.547+116828_547+116830delinsAAG
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