ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499250825
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1003631
ClinVar RCV Id:
RCV001300207
RCV002437018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn870His
CA382544146
NM_001351834.2:c.2608A>C