ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032390
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185083
ClinVar RCV Id:
RCV000164443
RCV000557491
RCV000779788
RCV001030525
RCV003238729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr935Arg
CA190962
NM_001351834.2:c.2804C>G