ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031351
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184942
ClinVar RCV Id:
RCV000164285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro178Ser
CA190540
NM_001351834.2:c.532C>T