Allele Registry

Canonical Allele Identifier: PA196683

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166765

RCV000197716

RCV000513206

RCV000625763

RCV002265647

RCV002485035

ClinVar Variation:

187077

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ile2606Val	CA196681 NM_000051.4:c.7816A>G