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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:
CA1563552048
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.92222712_92222717delinsCTGCTG , CM000667.2:g.92222712_92222717delinsCTGCTG
GRCh38
NC_000005.9:g.91518529_91518534delinsCTGCTG , CM000667.1:g.91518529_91518534delinsCTGCTG
GRCh37
NC_000005.8:g.91554285_91554290delinsCTGCTG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948565.1:n.394+18028_394+18033delinsCTGCTG
Search 100 bp 5'
Search 100 bp 3'