ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580446610
Gene: DEF6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071330.3:p.Arg192Cys
CA3770749
NM_022047.4:c.574C>T