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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:
CA2749023311
Gene: KCNS3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17933504del , CM000664.2:g.17933504del
GRCh38
NC_000002.11:g.18114771del , CM000664.1:g.18114771del
GRCh37
NC_000002.10:g.17978252del
NCBI36
NG_012873.1:g.59827del
Transcript Alleles
HGVS
Amino-acid change
ENST00000465292.5:n.305+15633del
Search 100 bp 5'
Search 100 bp 3'