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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:
CA2772760657
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.117450018_117450019insCCTTGCATATTTTTT , CM000668.2:g.117450018_117450019insCCTTGCATATTTTTT
GRCh38
NC_000006.11:g.117771181_117771182insCCTTGCATATTTTTT , CM000668.1:g.117771181_117771182insCCTTGCATATTTTTT
GRCh37
NC_000006.10:g.117877874_117877875insCCTTGCATATTTTTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000467125.1:c.547+116835_547+116836insAAAAAATATGCAAGG
ENSP00000487717.1:n.547+116835_547+116836insAAAAAATATGCAAGG
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