Allele Registry

Canonical Allele Identifier: PA193832

Gene: ATM HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asn1326Lys	CA193830 NM_000051.4:c.3978C>A CA382526212 NM_000051.4:c.3978C>G