ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501135
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser854Tyr
CA6265060
NM_000051.4:c.2561C>A