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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:
CA2820110289
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010248del , CM000685.2:g.25010248del
GRCh38
NC_000023.10:g.25028365del , CM000685.1:g.25028365del
GRCh37
NC_000023.9:g.24938286del
NCBI36
NG_008281.1:g.10702del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+13del
MANE Select
ENSP00000368332.4:n.1119+13del
ENST00000379044.4:c.1119+13del
ENSP00000368332.4:n.1119+13del
NM_139058.2:c.1119+13del
NP_620689.1:n.1119+13del
NM_139058.3:c.1119+13del
MANE Select
NP_620689.1:n.1119+13del
Search 100 bp 5'
Search 100 bp 3'