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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:
CA1657688833
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.117450100_117450101delinsCT , CM000668.2:g.117450100_117450101delinsCT
GRCh38
NC_000006.11:g.117771263_117771264delinsCT , CM000668.1:g.117771263_117771264delinsCT
GRCh37
NC_000006.10:g.117877956_117877957delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000467125.1:c.547+116753_547+116754delinsAG
ENSP00000487717.1:n.547+116753_547+116754delinsAG
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