ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191397
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185234
ClinVar RCV Id:
RCV000164614
RCV000167992
RCV000479421
RCV000780899
RCV003153441
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gln1361Arg
CA191395
NM_000051.4:c.4082A>G