Allele Registry

Canonical Allele Identifier: PA091796

Gene: ATM HGNC NCBI

ClinVar Allele:

180457

ClinVar RCV:

RCV000159765

RCV000206187

RCV000220574

RCV003467242

ClinVar Variation:

181996

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu1465Pro	CA298357 NM_000051.4:c.4394T>C