ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032076
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
150593
ClinVar RCV:
RCV000129107
RCV000457240
RCV000586332
RCV001030521
RCV002228638
RCV003237338
ClinVar Variation:
140879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg717Trp
CA163812
NM_001351834.2:c.2149C>T