ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: SMPD1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000435350.1:p.Lys434Asn
ENST00000527275.5:c.1302G>C
ENST00000527275.5:c.1302G>T