Allele Registry

Canonical Allele Identifier: PA294424

Gene: ATM HGNC NCBI

ClinVar Allele:

152217

ClinVar RCV:

RCV000131651

RCV000204695

RCV000211988

RCV000780917

RCV001358229

RCV002291569

ClinVar Variation:

142503

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Thr935Met	CA294422 NM_000051.4:c.2804C>T