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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:
CA2396890256
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.21624836_21624838delinsCTG , CM000684.2:g.21624836_21624838delinsCTG
GRCh38
NC_000022.10:g.21979125_21979127delinsCTG , CM000684.1:g.21979125_21979127delinsCTG
GRCh37
NC_000022.9:g.20309125_20309127delinsCTG
NCBI36
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