Allele Registry

Canonical Allele Identifier: PA658801388

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000628109

RCV001019842

RCV003229849

ClinVar Variation:

524370

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp1103Asn	CA382517376 NM_000051.4:c.3307G>A