ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828761118
Gene: SP110
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2328387
ClinVar RCV Id:
RCV002934904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365374.1:p.Thr501Pro
CA2154480
NM_001378445.1:c.1501A>C