ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031268
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181903
ClinVar RCV Id:
RCV000159666
RCV000543356
RCV001021590
RCV001193630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn133Ile
CA298093
NM_001351834.2:c.398A>T