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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:
CA2579576448
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25015525del , CM000685.2:g.25015525del
GRCh38
NC_000023.10:g.25033642del , CM000685.1:g.25033642del
GRCh37
NC_000023.9:g.24943563del
NCBI36
NG_008281.1:g.5424del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.196+17del
MANE Select
ENSP00000368332.4:n.196+17del
ENST00000379044.4:c.196+17del
ENSP00000368332.4:n.196+17del
NM_139058.2:c.196+17del
NP_620689.1:n.196+17del
NM_139058.3:c.196+17del
MANE Select
NP_620689.1:n.196+17del
Search 100 bp 5'
Search 100 bp 3'