ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA203838
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199662
ClinVar RCV Id:
RCV000181011
RCV000214902
RCV000537344
RCV000486041
RCV002465556
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2911Ile
CA203836
NM_000051.4:c.8732C>T