Allele Registry

Canonical Allele Identifier: PA194921

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166072

RCV000196727

RCV003468771

ClinVar Variation:

186472

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Pro872Leu	CA194919 NM_000051.4:c.2615C>T