ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827196551
Gene: SVIL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402169
ClinVar RCV Id:
RCV000454313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310529.1:p.Ser815Leu
CA5456867
NM_001323600.1:c.2444C>T