Allele Registry

Canonical Allele Identifier: PA157206

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115277

RCV000120169

RCV000586032

RCV000988648

RCV001262803

RCV001798328

RCV002225327

ClinVar Variation:

127471

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser333Phe	CA157204 NM_000051.4:c.998C>T