ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916034738
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229723
ClinVar RCV Id:
RCV000217725
RCV000229175
RCV000478838
RCV001818515
RCV003468980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2776Thr
CA6266352
NM_001351834.2:c.8327T>C