ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139737985
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val1569Ala
CA382534882
NM_001351834.2:c.4706T>C