ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031708
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575686
ClinVar RCV Id:
RCV000697979
RCV001010709
RCV001771977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser426Asn
CA382533453
NM_001351834.2:c.1277G>A