ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA206575
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127379
ClinVar RCV Id:
RCV000168271
RCV000115184
RCV000193232
RCV000656759
RCV001354169
RCV004549549
RCV003492456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro1354Thr
CA206573
NM_000051.4:c.4060C>A