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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:
CA625447435
Gene:
Linked Data
dbSNP Id:
rs1480373023
gnomAD v2:
17-28564274-GGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA-G
gnomAD v3:
17-30237256-GGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA-G
gnomAD v4:
17-30237256-GGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA-G
MyVariant Identifiers:
chr17:g.28564275_28564317del (hg19)
chr17:g.30237257_30237299del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237265_30237307del , CM000679.2:g.30237265_30237307del
GRCh38
NC_000017.10:g.28564283_28564325del , CM000679.1:g.28564283_28564325del
GRCh37
NC_000017.9:g.25588409_25588451del
NCBI36
NG_011747.2:g.3638_3680del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+195_165+237del
XR_001752824.1:n.280+195_280+237del
Search 100 bp 5'
Search 100 bp 3'