ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825381310
Gene: SIL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2689990
ClinVar RCV Id:
RCV003486247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032722.1:p.Gly444Cys
CA361136428
NM_001037633.1:c.1330G>T