ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032242
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141514
ClinVar RCV Id:
RCV000130079
RCV000168121
RCV000211983
RCV002288634
RCV003226209
RCV004551252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gly844Glu
CA294150
NM_001351834.2:c.2531G>A