Allele Registry

Canonical Allele Identifier: PA196296

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166609

RCV000235567

RCV001205244

ClinVar Variation:

186941

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Gln2066His	CA196294 NM_000051.4:c.6198G>C CA382550814 NM_000051.4:c.6198G>T