ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828760617
Gene: SP110
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365373.1:p.Ala134Val
CA2154843
NM_001378444.1:c.401C>T