Allele Registry

Canonical Allele Identifier: PA645501530

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000219464

RCV000704906

RCV001247764

RCV001268471

RCV002255639

RCV003469101

RCV003469477

ClinVar Variation:

234132

971880

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Trp1026Cys	CA10579081 NM_000051.4:c.3078G>T CA382514984 NM_000051.4:c.3078G>C