ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828760783
Gene: SP110
HGNC
NCBI
Linked Data
ClinVar Variation Id:
933843
ClinVar RCV Id:
RCV001202137
RCV004033525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365373.1:p.Arg496Gln
CA2154482
NM_001378444.1:c.1487G>A