ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826306662
Gene: DEF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229745.1:p.Val346Met
CA8256849
NM_001242816.2:c.1036G>A