ClinGen Allele Registry
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Canonical Allele Identifier:
PA117581
Gene: SP110
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20578
ClinVar RCV:
RCV000005877
RCV000455916
RCV001517855
ClinVar Variation:
5539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171944.1:p.Leu431Ser
CA117579
NM_001185015.2:c.1292T>C