ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825034074
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
655515
ClinVar RCV Id:
RCV000811708
RCV002345845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1842Ile
CA382545818
NM_000051.4:c.5524C>A