ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658673404
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453518
ClinVar RCV Id:
RCV000525165
RCV003483654
RCV003278875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu145Arg
CA382525216
NM_000051.4:c.434T>G