ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580189618
Gene: FAM53A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284364.1:p.Arg269Lys
CA355983697
NM_001297435.1:c.806G>A