ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195958
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186816
ClinVar RCV Id:
RCV000166467
RCV000226670
RCV000236655
RCV001824657
RCV003462214
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gln684Arg
CA195956
NM_000051.4:c.2051A>G