ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA157067
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133604
ClinVar RCV Id:
RCV000120117
RCV000205062
RCV000128892
RCV000224104
RCV002492416
RCV003315722
RCV002225356
RCV003149818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu546Val
CA157065
NM_000051.4:c.1636C>G