ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825030689
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1005372
ClinVar RCV Id:
RCV001302231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys331Met
CA382531283
NM_000051.4:c.992A>T