ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157191
Gene: ATM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile217Val
CA157189
NM_000051.4:c.649A>G