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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:
CA982865180
Gene:
Linked Data
dbSNP Id:
rs1907308803
gnomAD v3:
17-30237135-AGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGG-A
gnomAD v4:
17-30237135-AGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGGATGCTGG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237152_30237193del , CM000679.2:g.30237152_30237193del
GRCh38
NC_000017.10:g.28564170_28564211del , CM000679.1:g.28564170_28564211del
GRCh37
NC_000017.9:g.25588296_25588337del
NCBI36
NG_011747.2:g.3760_3801del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+82_165+123del
XR_001752824.1:n.280+82_280+123del
Search 100 bp 5'
Search 100 bp 3'