Allele Registry

Canonical Allele Identifier: PA645502986

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000434309

RCV000817772

RCV002339077

ClinVar Variation:

389279

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Val1671Phe	CA16605809 NM_000051.4:c.5011G>T