ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032652
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000219389
RCV000478505
RCV001853542
ClinVar Variation:
231140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn1122Ser
CA6265269
NM_001351834.2:c.3365A>G