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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:
CA2501524400
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220491626_220491627insAAAATACTATATAC , CM000663.2:g.220491626_220491627insAAAATACTATATAC
GRCh38
NC_000001.10:g.220664968_220664969insAAAATACTATATAC , CM000663.1:g.220664968_220664969insAAAATACTATATAC
GRCh37
NC_000001.9:g.218731591_218731592insAAAATACTATATAC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_922615.1:n.256-608_256-607insAAAATACTATATAC
XR_001737822.1:n.557-608_557-607insAAAATACTATATAC
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