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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:
CA982865200
Gene:
Linked Data
dbSNP Id:
rs1907308717
gnomAD v3:
17-30237135-AGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTG-A
gnomAD v4:
17-30237135-AGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237140_30237180del , CM000679.2:g.30237140_30237180del
GRCh38
NC_000017.10:g.28564158_28564198del , CM000679.1:g.28564158_28564198del
GRCh37
NC_000017.9:g.25588284_25588324del
NCBI36
NG_011747.2:g.3761_3801del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+70_165+110del
XR_001752824.1:n.280+70_280+110del
Search 100 bp 5'
Search 100 bp 3'