Allele Registry

Canonical Allele Identifier: PA2825032793

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001021034

RCV002549532

ClinVar Variation:

824155

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser1250Pro	CA382524179 NM_000051.4:c.3748T>C