ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA248001
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199030
ClinVar RCV Id:
RCV000180513
RCV001510596
RCV002444721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Arg1022Gln
CA248000
NM_000489.5:c.3065G>A