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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:
CA2485026932
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.211379655_211379657delinsCAG , CM000663.2:g.211379655_211379657delinsCAG
GRCh38
NC_000001.10:g.211552997_211552999delinsCAG , CM000663.1:g.211552997_211552999delinsCAG
GRCh37
NC_000001.9:g.209619620_209619622delinsCAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738446.1:n.291+2538_292-2539delinsCTG
Search 100 bp 5'
Search 100 bp 3'