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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:
CA982865388
Gene:
Linked Data
dbSNP Id:
rs1907310382
gnomAD v3:
17-30237159-G-GGGC
gnomAD v4:
17-30237159-G-GGGC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237159_30237160insGGC , CM000679.2:g.30237159_30237160insGGC
GRCh38
NC_000017.10:g.28564177_28564178insGGC , CM000679.1:g.28564177_28564178insGGC
GRCh37
NC_000017.9:g.25588303_25588304insGGC
NCBI36
NG_011747.2:g.3777_3778insGCC
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+89_165+90insGGC
XR_001752824.1:n.280+89_280+90insGGC
Search 100 bp 5'
Search 100 bp 3'