ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825030441
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964354
ClinVar RCV Id:
RCV001238559
RCV001526207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His231Leu
CA382529081
NM_000051.4:c.692A>T