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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:
CA2420208003
Gene: ARX
HGNC
NCBI
Linked Data
dbSNP Id:
rs1434251734
gnomAD v4:
X-25010195-A-ATC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010206_25010207dup , CM000685.2:g.25010206_25010207dup
GRCh38
NC_000023.10:g.25028323_25028324dup , CM000685.1:g.25028323_25028324dup
GRCh37
NC_000023.9:g.24938244_24938245dup
NCBI36
NG_008281.1:g.10752_10753dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+63_1119+64dup
MANE Select
ENSP00000368332.4:n.1119+63_1119+64dup
ENST00000379044.4:c.1119+63_1119+64dup
ENSP00000368332.4:n.1119+63_1119+64dup
NM_139058.2:c.1119+63_1119+64dup
NP_620689.1:n.1119+63_1119+64dup
NM_139058.3:c.1119+63_1119+64dup
MANE Select
NP_620689.1:n.1119+63_1119+64dup
Search 100 bp 5'
Search 100 bp 3'