ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032257
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
821466
ClinVar RCV Id:
RCV001015915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val849Met
CA382543673
NM_001351834.2:c.2545G>A