Allele Registry

Canonical Allele Identifier: PA197340

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000167036

RCV000526903

RCV003156228

ClinVar Variation:

187317

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ile3040Thr	CA197338 NM_000051.4:c.9119T>C