ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031850
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133604
ClinVar RCV Id:
RCV000120117
RCV000205062
RCV000128892
RCV000224104
RCV002492416
RCV003315722
RCV002225356
RCV003149818
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu546Val
CA157065
NM_001351834.2:c.1636C>G