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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:
CA2141801073
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501581_62501583delinsCAA , CM000676.2:g.62501581_62501583delinsCAA
GRCh38
NC_000014.8:g.62968299_62968301delinsCAA , CM000676.1:g.62968299_62968301delinsCAA
GRCh37
NC_000014.7:g.62038052_62038054delinsCAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2460_116-2458delinsCAA
XR_943932.2:n.103-2460_103-2458delinsCAA
Search 100 bp 5'
Search 100 bp 3'