Canonical Allele Identifier: PA2825288412
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Glu247Gln
CA379370913
NM_001007593.3:c.739G>C
CA2695213119
NM_001007593.3:c.738_739delinsGC