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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:
CA1657688821
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.117450065_117450066delinsGA , CM000668.2:g.117450065_117450066delinsGA
GRCh38
NC_000006.11:g.117771228_117771229delinsGA , CM000668.1:g.117771228_117771229delinsGA
GRCh37
NC_000006.10:g.117877921_117877922delinsGA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000467125.1:c.547+116788_547+116789delinsTC
ENSP00000487717.1:n.547+116788_547+116789delinsTC
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