ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA294424
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142503
ClinVar RCV Id:
RCV000131651
RCV000204695
RCV000211988
RCV000780917
RCV001358229
RCV002291569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr935Met
CA294422
NM_000051.4:c.2804C>T