ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031552
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141123
ClinVar RCV Id:
RCV000129488
RCV000486107
RCV000675169
RCV002483260
RCV004019731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile323Val
CA164527
NM_001351834.2:c.967A>G