Canonical Allele Identifier: PA2825288595
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Glu410Asp
CA379373782
NM_001007593.3:c.1230G>T
CA379373784
NM_001007593.3:c.1230G>C