ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032036
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407678
ClinVar RCV Id:
RCV000471563
RCV000573324
RCV001731691
RCV003463887
RCV003492054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu688Lys
CA6264922
NM_001351834.2:c.2062G>A