ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032240
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000566936
RCV003500558
ClinVar Variation:
482604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn843Asp
CA382543523
NM_001351834.2:c.2527A>G