Allele Registry

Canonical Allele Identifier: PA2830248914

Gene: ATRX HGNC NCBI

ClinVar RCV:

RCV000180511

RCV002517764

RCV004537510

ClinVar Variation:

199028

HGVS (amino-acid)	Matching Registered Transcripts
NP_612114.2:p.Lys387Gln	CA247996 NM_138270.5:c.1159A>C