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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
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Canonical Allele Identifier:
CA1284436086
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.122379257_122379261delinsCTGAG , CM000664.2:g.122379257_122379261delinsCTGAG
GRCh38
NC_000002.11:g.123136833_123136837delinsCTGAG , CM000664.1:g.123136833_123136837delinsCTGAG
GRCh37
NC_000002.10:g.122853303_122853307delinsCTGAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_923278.1:n.556-13706_556-13702delinsCTGAG
XR_001739684.1:n.556-13706_556-13702delinsCTGAG
Search 100 bp 5'
Search 100 bp 3'