ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286811
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127372
ClinVar RCV Id:
RCV000115177
RCV000199179
RCV000215488
RCV001818259
RCV003338413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg1150Thr
CA286809
NM_000051.4:c.3449G>C