Allele Registry

Canonical Allele Identifier: PA169311

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000132126

RCV000522314

RCV000627852

ClinVar Variation:

142749

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Met2520Arg	CA169309 NM_000051.4:c.7559T>G