ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032061
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220354
ClinVar RCV Id:
RCV000206792
RCV000222064
RCV002243888
RCV003493501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile709Met
CA350788
NM_001351834.2:c.2127T>G