Allele Registry

Canonical Allele Identifier: PA645503691

Gene: ATM HGNC NCBI

ClinVar Allele:

398310

ClinVar RCV:

RCV000473719

RCV003985356

ClinVar Variation:

407515

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Gln2177Pro	CA16613415 NM_000051.4:c.6530A>C