Allele Registry

Canonical Allele Identifier: PA2825032791

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV003025026

ClinVar Variation:

2120189

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser1250Phe	CA382524197 NM_000051.4:c.3749C>T