ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573281190
Gene: DEF6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071330.3:p.Lys5Glu
CA363759557
NM_022047.4:c.13A>G