ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829527586
Gene: SP110
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004501.4:p.Ala128Val
CA2154843
NM_004510.4:c.383C>T