ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252370
Gene: SIL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001032722.1:p.Arg111Ter
NM_001037633.1:c.331C>T