Allele Registry

Canonical Allele Identifier: PA645504456

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000215297

ClinVar Variation:

232712

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp2720Asn	CA10579284 NM_000051.4:c.8158G>A