ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825031208
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile559Met
CA382535142
NM_000051.4:c.1677A>G