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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:
CA1284436075
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.122379228_122379232delinsGTATC , CM000664.2:g.122379228_122379232delinsGTATC
GRCh38
NC_000002.11:g.123136804_123136808delinsGTATC , CM000664.1:g.123136804_123136808delinsGTATC
GRCh37
NC_000002.10:g.122853274_122853278delinsGTATC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_923278.1:n.556-13735_556-13731delinsGTATC
XR_001739684.1:n.556-13735_556-13731delinsGTATC
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