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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:
CA2695233370
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25004903_25004911del , CM000685.2:g.25004903_25004911del
GRCh38
NC_000023.10:g.25023020_25023028del , CM000685.1:g.25023020_25023028del
GRCh37
NC_000023.9:g.24932941_24932949del
NCBI36
NG_008281.1:g.16038_16046del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1449-1_1456del
ENST00000636885.1:n.37-1_44del
ENST00000379044.4:c.1449-1_1456del
NM_139058.2:c.1449-1_1456del
NM_139058.3:c.1449-1_1456del
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