Allele Registry

Canonical Allele Identifier: PA645500649

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000235738

RCV001014539

RCV001313734

ClinVar Variation:

245775

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ile709Phe	CA10584329 NM_000051.4:c.2125A>T