Allele Registry

Canonical Allele Identifier: PA2825031554

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001052391

ClinVar Variation:

848601

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser712Leu	CA382538677 NM_000051.4:c.2135C>T