Allele Registry

Canonical Allele Identifier: PA2825031553

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV003038674

RCV003274157

ClinVar Variation:

2113247

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser712Pro	CA382538670 NM_000051.4:c.2134T>C