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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:
CA1805124415
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.98101328_98101330delinsCTG , CM000670.2:g.98101328_98101330delinsCTG
GRCh38
NC_000008.10:g.99113556_99113558delinsCTG , CM000670.1:g.99113556_99113558delinsCTG
GRCh37
NC_000008.9:g.99182732_99182734delinsCTG
NCBI36
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