Allele Registry

Canonical Allele Identifier: PA286959

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115239

RCV000212056

RCV001079437

RCV001201251

RCV001843477

RCV003492467

RCV004549567

ClinVar Variation:

127434

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Thr2333Lys	CA286957 NM_000051.4:c.6998C>A