Canonical Allele Identifier: PA1139742698
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Gly168Arg
CA379369663
NM_001365135.1:c.502G>A
CA379369666
NM_001365135.1:c.502G>C