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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:
CA1079297858
Gene:
Linked Data
gnomAD v3:
5-100006299-T-TAAAAAAA
gnomAD v4:
5-100006299-T-TAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006314_100006320dup , CM000667.2:g.100006314_100006320dup
GRCh38
NC_000005.9:g.99342018_99342024dup , CM000667.1:g.99342018_99342024dup
GRCh37
NC_000005.8:g.99369917_99369923dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'