ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033395
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407496
ClinVar RCV Id:
RCV000463817
RCV000580727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg1730Leu
CA16613065
NM_001351834.2:c.5189G>T