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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:
CA2603062608
Gene:
Linked Data
gnomAD v3:
11-116072514-T-TATTGCTG
gnomAD v4:
11-116072514-T-TATTGCTG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116072515_116072521dup , CM000673.2:g.116072515_116072521dup
GRCh38
NC_000011.9:g.115943233_115943239dup , CM000673.1:g.115943233_115943239dup
GRCh37
NC_000011.8:g.115448443_115448449dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948055.1:n.192+493_192+499dup
XR_948056.1:n.311-5316_311-5310dup
XR_948057.1:n.97+588_97+594dup
XR_001748401.1:n.192+493_192+499dup
XR_948055.2:n.192+493_192+499dup
XR_948056.2:n.314-5316_314-5310dup
XR_948057.2:n.97+588_97+594dup
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