ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031790
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185158
ClinVar RCV Id:
RCV000164527
RCV000627916
RCV000589044
RCV002247566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile495Val
CA191185
NM_001351834.2:c.1483A>G