Allele Registry

Canonical Allele Identifier: PA194899

Gene: ATM HGNC NCBI

ClinVar Allele:

183299

1809079

ClinVar RCV:

RCV000166063

RCV000548784

RCV002337752

ClinVar Variation:

186464

1742998

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu1592Asp	CA194897 NM_000051.4:c.4776G>C CA382535223 NM_000051.4:c.4776G>T