ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645500657
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265336
ClinVar RCV Id:
RCV000255958
RCV002429195
RCV002521852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val716Asp
CA10588493
NM_000051.4:c.2147T>A