ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916033748
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230152
ClinVar RCV Id:
RCV000216689
RCV000543617
RCV001251347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Tyr2019Cys
CA10579205
NM_001351834.2:c.6056A>G