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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:
CA1079297863
Gene:
Linked Data
gnomAD v3:
5-100006299-T-TAAAAAAAA
gnomAD v4:
5-100006299-T-TAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006313_100006320dup , CM000667.2:g.100006313_100006320dup
GRCh38
NC_000005.9:g.99342017_99342024dup , CM000667.1:g.99342017_99342024dup
GRCh37
NC_000005.8:g.99369916_99369923dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'