Allele Registry

Canonical Allele Identifier: PA298256

Gene: ATM HGNC NCBI

ClinVar Allele:

180463

ClinVar RCV:

RCV000159727

RCV000204984

RCV000587149

RCV001250435

RCV001268973

ClinVar Variation:

181960

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg1575His	CA298254 NM_000051.4:c.4724G>A