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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:
CA2579576449
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25015530del , CM000685.2:g.25015530del
GRCh38
NC_000023.10:g.25033647del , CM000685.1:g.25033647del
GRCh37
NC_000023.9:g.24943568del
NCBI36
NG_008281.1:g.5421del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.196+14del
MANE Select
ENSP00000368332.4:n.196+14del
ENST00000379044.4:c.196+14del
ENSP00000368332.4:n.196+14del
NM_139058.2:c.196+14del
NP_620689.1:n.196+14del
NM_139058.3:c.196+14del
MANE Select
NP_620689.1:n.196+14del
Search 100 bp 5'
Search 100 bp 3'