ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916033968
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220531
ClinVar RCV Id:
RCV000206774
RCV000216900
RCV000588892
RCV001268980
RCV000763709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser2168Leu
CA350774
NM_001351834.2:c.6503C>T