ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580176020
Gene: FAM47E-STBD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229868.1:p.Pro324Ser
CA2970575
NM_001242939.2:c.970C>T