ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916033477
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524295
ClinVar RCV Id:
RCV000627973
RCV001024041
RCV001355769
RCV003235316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn1801Ser
CA382543745
NM_001351834.2:c.5402A>G