ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825031569
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2874927
ClinVar RCV Id:
RCV003605577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser719Pro
CA6264958
NM_000051.4:c.2155T>C