Allele Registry

Canonical Allele Identifier: PA645501775

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000218210

RCV000221290

RCV000474968

RCV000780901

RCV002288862

ClinVar Variation:

230990

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Val1160Leu	CA6265298 NM_000051.4:c.3478G>C CA382519481 NM_000051.4:c.3478G>T