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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:
CA1748173506
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.141805344_141805348delinsGTAAC , CM000669.2:g.141805344_141805348delinsGTAAC
GRCh38
NC_000007.13:g.141505144_141505148delinsGTAAC , CM000669.1:g.141505144_141505148delinsGTAAC
GRCh37
NC_000007.12:g.141151613_141151617delinsGTAAC
NCBI36
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