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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:
CA982866579
Gene:
Linked Data
dbSNP Id:
rs2143017426
gnomAD v3:
17-30237316-CAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGA-C
gnomAD v4:
17-30237316-CAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237324_30237366del , CM000679.2:g.30237324_30237366del
GRCh38
NC_000017.10:g.28564342_28564384del , CM000679.1:g.28564342_28564384del
GRCh37
NC_000017.9:g.25588468_25588510del
NCBI36
NG_011747.2:g.3578_3620del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+254_166-276del
XR_001752824.1:n.280+254_281-276del
Search 100 bp 5'
Search 100 bp 3'