ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916034656
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
565439
ClinVar RCV:
RCV000695980
ClinVar Variation:
574133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp2720His
CA382562467
NM_001351834.2:c.8158G>C