ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645397010
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_003165.2:p.Ser783Leu
CA5456867
NM_003174.3:c.2348C>T