Allele Registry

Canonical Allele Identifier: PA2825032789

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV003350776

RCV003605869

ClinVar Variation:

2587759

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg1249Ser	CA382524174 NM_000051.4:c.3747A>C CA382524175 NM_000051.4:c.3747A>T