ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827629866
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Val4Ile
CA382518937
NM_001351835.2:c.10G>A