ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825034698
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2826611
ClinVar RCV Id:
RCV003606391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2119Ile
CA382553163
NM_000051.4:c.6355G>A