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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:
CA2820109497
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25004809del , CM000685.2:g.25004809del
GRCh38
NC_000023.10:g.25022926del , CM000685.1:g.25022926del
GRCh37
NC_000023.9:g.24932847del
NCBI36
NG_008281.1:g.16140del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000379044.5:c.1550del
MANE Select
ENSP00000368332.4:p.Leu517ArgfsTer16
ENST00000379044.4:c.1550del
ENSP00000368332.4:p.Leu517ArgfsTer16
NM_139058.2:c.1550del
NP_620689.1:p.Leu517ArgfsTer16
NM_139058.3:c.1550del
MANE Select
NP_620689.1:p.Leu517ArgfsTer16
Search 100 bp 5'
Search 100 bp 3'