ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825829468
Gene: FAM47E
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001130042.1:p.Pro324Ser
CA2970575
NM_001136570.3:c.970C>T