ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825035907
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1938069
ClinVar RCV Id:
RCV002662445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2663Leu
CA382561773
NM_000051.4:c.7987G>C