ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2742007286
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2949854
ClinVar RCV Id:
RCV003805020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Pro446Leu
CA412611221
NM_139058.3:c.1337C>T