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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:
CA1139325380
Gene:
Linked Data
gnomAD v3:
Y-14130522-C-CTTTTTTTT
gnomAD v4:
Y-14130522-C-CTTTTTTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14130533_14130540dup , CM000686.2:g.14130533_14130540dup
GRCh38
NC_000024.9:g.16242413_16242420dup , CM000686.1:g.16242413_16242420dup
GRCh37
NC_000024.8:g.14751807_14751814dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'