ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741941792
Gene: SPEN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055816.2:p.Arg131Gln
CA338597091
NM_015001.3:c.392G>A