ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA091792
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000215525
RCV000800002
ClinVar Variation:
232389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2702Arg
CA10579282
NM_000051.4:c.8105T>G