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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:
CA2793754340
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116442807dup , CM000673.2:g.116442807dup
GRCh38
NC_000011.9:g.116313524dup , CM000673.1:g.116313524dup
GRCh37
NC_000011.8:g.115818734dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001748403.1:n.349+31070dup
Search 100 bp 5'
Search 100 bp 3'