ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580405302
Gene: SMPD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061137.1:p.Glu654Ala
CA8127772
NM_018667.4:c.1961A>C