ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA190964
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185083
ClinVar RCV Id:
RCV000164443
RCV000557491
RCV000779788
RCV001030525
RCV003238729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr935Arg
CA190962
NM_000051.4:c.2804C>G