Allele Registry

Canonical Allele Identifier: PA338092

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000198659

RCV002444808

RCV003468903

ClinVar Variation:

216236

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp2987His	CA338090 NM_000051.4:c.8959G>C