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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:
CA2141801221
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501721_62501726delinsATAGGT , CM000676.2:g.62501721_62501726delinsATAGGT
GRCh38
NC_000014.8:g.62968439_62968444delinsATAGGT , CM000676.1:g.62968439_62968444delinsATAGGT
GRCh37
NC_000014.7:g.62038192_62038197delinsATAGGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2320_116-2315delinsATAGGT
XR_943932.2:n.103-2320_103-2315delinsATAGGT
Search 100 bp 5'
Search 100 bp 3'