ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825381295
Gene: SIL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1716558
ClinVar RCV Id:
RCV002304710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032722.1:p.Pro416His
CA361136602
NM_001037633.1:c.1247C>A