ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033560
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233138
ClinVar RCV Id:
RCV000222325
RCV000627966
RCV000587287
RCV003469066
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Cys1873Tyr
CA10579188
NM_001351834.2:c.5618G>A