Allele Registry

Canonical Allele Identifier: PA645503781

Gene: ATM HGNC NCBI

ClinVar Allele:

371908

ClinVar RCV:

RCV000436625

RCV000580593

RCV000628084

ClinVar Variation:

393261

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser2389Leu	CA16606117 NM_000051.4:c.7166C>T