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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:
CA2470498251
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.11871485_11871487delinsCAA , CM000686.2:g.11871485_11871487delinsCAA
GRCh38
NC_000024.9:g.13992191_13992193delinsCAA , CM000686.1:g.13992191_13992193delinsCAA
GRCh37
NC_000024.8:g.12502191_12502193delinsCAA
NCBI36
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