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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:
CA2824925648
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14130532_14130540dup , CM000686.2:g.14130532_14130540dup
GRCh38
NC_000024.9:g.16242412_16242420dup , CM000686.1:g.16242412_16242420dup
GRCh37
NC_000024.8:g.14751806_14751814dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'