ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289279
Gene: SIL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1010979
ClinVar RCV Id:
RCV001308710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071909.1:p.Arg411Cys
CA3432342
NM_022464.5:c.1231C>T