ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032204
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001015657
RCV001062799
ClinVar Variation:
821337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile826Met
CA382543178
NM_001351834.2:c.2478C>G