Allele Registry

Canonical Allele Identifier: PA658674476

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000563090

ClinVar Variation:

481233

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser1250Thr	CA382524176 NM_000051.4:c.3748T>A