ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031640
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127331
ClinVar RCV Id:
RCV000590112
RCV000115135
RCV000464763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Tyr380Asn
CA286714
NM_001351834.2:c.1138T>A