ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA194565
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186351
ClinVar RCV Id:
RCV000165932
RCV000200060
RCV003468762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly2765Ser
CA194563
NM_000051.4:c.8293G>A