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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:
CA2302009998
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001488_49001502delinsTGCCTCTCCTCCAGG , CM000680.2:g.49001488_49001502delinsTGCCTCTCCTCCAGG
GRCh38
NC_000018.9:g.46527858_46527872delinsTGCCTCTCCTCCAGG , CM000680.1:g.46527858_46527872delinsTGCCTCTCCTCCAGG
GRCh37
NC_000018.8:g.44781856_44781870delinsTGCCTCTCCTCCAGG
NCBI36
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