ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032750
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236707
ClinVar RCV Id:
RCV000227875
RCV000569109
RCV000486877
RCV001030527
RCV001818551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg1205His
CA6265325
NM_001351834.2:c.3614G>A