ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825031871
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3232544
ClinVar RCV Id:
RCV004521219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Phe858Cys
CA382543873
NM_000051.4:c.2573T>G