ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580339291
Gene: ATE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008972.2:p.Asn249Ile
CA5721601
NM_007041.4:c.746A>T