ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA191953
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185437
ClinVar RCV Id:
RCV000164863
RCV000200270
RCV000235327
RCV004552897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg451Cys
CA191951
NM_000051.4:c.1351C>T