ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066504335
Gene: SP140
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009168.4:p.Glu516Lys
CA2155513
NM_007237.5:c.1546G>A