ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499250953
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile1927Val
CA6265786
NM_001351834.2:c.5779A>G