Allele Registry

Canonical Allele Identifier: PA645501513

Gene: ATM HGNC NCBI

ClinVar Allele:

398286

ClinVar RCV:

RCV000465215

RCV001018058

ClinVar Variation:

407711

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser1004Asn	CA16613394 NM_000051.4:c.3011G>A