ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA197809
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187501
ClinVar RCV Id:
RCV000167236
RCV000819663
RCV003444209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu615Pro
CA197807
NM_000051.4:c.1844T>C