ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166459
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141800
ClinVar RCV Id:
RCV000130454
RCV000203883
RCV000522109
RCV004525877
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gln1982Arg
CA166457
NM_000051.4:c.5945A>G