ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916035043
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181905
ClinVar RCV Id:
RCV000159669
RCV000221585
RCV000531722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn3003Ser
CA298099
NM_001351834.2:c.9008A>G