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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:
CA412612931
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2952794
ClinVar RCV Id:
RCV003817928
gnomAD v4:
X-25013445-G-C
MyVariant Identifiers:
chrX:g.25031562G>C (hg19)
chrX:g.25013445G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25013445G>C , CM000685.2:g.25013445G>C
GRCh38
NC_000023.10:g.25031562G>C , CM000685.1:g.25031562G>C
GRCh37
NC_000023.9:g.24941483G>C
NCBI36
NG_008281.1:g.7504C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.550C>G
MANE Select
ENSP00000368332.4:p.Pro184Ala
ENST00000379044.4:c.550C>G
ENSP00000368332.4:p.Pro184Ala
NM_139058.2:c.550C>G
NP_620689.1:p.Pro184Ala
NM_139058.3:c.550C>G
MANE Select
NP_620689.1:p.Pro184Ala
Search 100 bp 5'
Search 100 bp 3'