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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:
CA1929289795
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94937382_94937383delinsCT , CM000672.2:g.94937382_94937383delinsCT
GRCh38
NC_000010.10:g.96697139_96697140delinsCT , CM000672.1:g.96697139_96697140delinsCT
GRCh37
NC_000010.9:g.96687129_96687130delinsCT
NCBI36
NG_008385.1:g.3725_3726delinsCT
NG_008385.2:g.4225_4226delinsCT
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