Canonical Allele Identifier: PA2825206050
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Glu411Asp
CA379373782
NM_000543.5:c.1233G>T
CA379373784
NM_000543.5:c.1233G>C