ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139733984
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
927891
ClinVar RCV Id:
RCV001191463
RCV001219750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile559Met
CA382535142
NM_001351834.2:c.1677A>G