Allele Registry

Canonical Allele Identifier: PA332314

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000122819

RCV000485863

RCV000574147

ClinVar Variation:

135733

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser49Phe	CA332312 NM_000051.4:c.146C>T