ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825034098
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1409818
ClinVar RCV Id:
RCV001916071
RCV004042855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1851Pro
CA382545993
NM_000051.4:c.5552T>C