ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915979747
Gene: EIF1AX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001403.1:p.Glu99Lys
CA412507801
NM_001412.3:c.295G>A