Canonical Allele Identifier: PA2573210518
Gene: SMPD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Glu248Gln
CA379370913
NM_001365135.1:c.742G>C
CA2695213119
NM_001365135.1:c.741_742delinsGC