Allele Registry

Canonical Allele Identifier: PA196341

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166626

RCV000205290

RCV000569504

RCV003324726

ClinVar Variation:

186957

482564

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Val1486Leu	CA196339 NM_000051.4:c.4456G>C CA382533024 NM_000051.4:c.4456G>T