ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032032
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482580
ClinVar RCV Id:
RCV000564106
RCV001051372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn685Ile
CA382537464
NM_001351834.2:c.2054A>T