Allele Registry

Canonical Allele Identifier: PA645502712

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000218537

RCV002516183

ClinVar Variation:

234248

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp1364Glu	CA10579133 NM_000051.4:c.4092C>A CA382528484 NM_000051.4:c.4092C>G