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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:
CA1990820334
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.91046122A= , CM000673.2:g.91046122A=
GRCh38
NC_000011.9:g.90779290A= , CM000673.1:g.90779290A=
GRCh37
NC_000011.8:g.90418938A=
NCBI36
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