ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA190614
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184966
ClinVar RCV Id:
RCV000164315
RCV000228294
RCV000994709
RCV003474856
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg1618Gln
CA190612
NM_000051.4:c.4853G>A