Canonical Allele Identifier: PA2826978719
Gene: SMPD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Glu248Gln
CA379370913
NM_001318087.2:c.742G>C
CA2695213119
NM_001318087.2:c.741_742delinsGC