ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA193472
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185950
ClinVar RCV Id:
RCV000165465
RCV000693053
RCV001778760
RCV004552909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn2241Ser
CA193470
NM_000051.4:c.6722A>G