Allele Registry

Canonical Allele Identifier: PA157176

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000120159

RCV000130402

RCV000168144

RCV000586791

RCV001355591

RCV003325183

ClinVar Variation:

133634

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Thr2640Ile	CA157174 NM_000051.4:c.7919C>T