ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294245
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142043
ClinVar RCV Id:
RCV000130847
RCV000200096
RCV000587182
RCV001357259
RCV003321515
RCV003474771
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn1230Ser
CA294243
NM_000051.4:c.3689A>G