ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828760286
Gene: SP110
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365372.1:p.Ala128Val
CA2154843
NM_001378443.1:c.383C>T