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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:
CA2593478922
Gene: KCNS3
HGNC
NCBI
Linked Data
gnomAD v3:
2-17933491-CCAA-C
gnomAD v4:
2-17933491-CCAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17933494_17933496del , CM000664.2:g.17933494_17933496del
GRCh38
NC_000002.11:g.18114761_18114763del , CM000664.1:g.18114761_18114763del
GRCh37
NC_000002.10:g.17978242_17978244del
NCBI36
NG_012873.1:g.59817_59819del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000465292.5:n.305+15623_305+15625del
Search 100 bp 5'
Search 100 bp 3'