ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825033991
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1198351
ClinVar RCV Id:
RCV001562470
RCV003235588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn1801Thr
CA382543744
NM_000051.4:c.5402A>C