Allele Registry

Canonical Allele Identifier: PA198096

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000167357

RCV000550379

RCV003319326

ClinVar Variation:

187613

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ala2524Pro	CA198094 NM_000051.4:c.7570G>C