ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830155691
Gene: SP110
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1973708
ClinVar RCV Id:
RCV002736205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536349.3:p.Arg490Trp
CA2154483
NM_080424.4:c.1468C>T