Allele Registry

Canonical Allele Identifier: PA658671173

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000525512

RCV000570783

RCV001764521

ClinVar Variation:

453755

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp2987Tyr	CA382530262 NM_000051.4:c.8959G>T