ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032119
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132803
ClinVar RCV:
RCV000115151
RCV000205470
RCV000515206
RCV000589762
RCV001798310
RCV002469010
RCV003460800
ClinVar Variation:
127346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser759Gly
CA286747
NM_001351834.2:c.2275A>G