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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:
CA2813244072
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1107004_1107007del , CM000681.2:g.1107004_1107007del
GRCh38
NC_000019.9:g.1107003_1107006del , CM000681.1:g.1107003_1107006del
GRCh37
NC_000019.8:g.1058003_1058006del
NCBI36
NG_050621.1:g.8079_8082del
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