ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032856
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181994
ClinVar RCV Id:
RCV000159763
RCV000474326
RCV001290629
RCV002466454
RCV003225035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu1283Pro
CA298351
NM_001351834.2:c.3848T>C