ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825030642
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949407
ClinVar RCV Id:
RCV001220863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn314His
CA382530766
NM_000051.4:c.940A>C