ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA151922
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3027
ClinVar RCV Id:
RCV000003166
RCV000116423
RCV000123734
RCV000203947
RCV000224788
RCV002225257
RCV001797989
RCV002221465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met1040Val
CA151920
NM_000051.4:c.3118A>G