Allele Registry

Canonical Allele Identifier: PA645501717

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000219389

RCV000478505

RCV001853542

ClinVar Variation:

231140

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asn1122Ser	CA6265269 NM_000051.4:c.3365A>G