Allele Registry

Canonical Allele Identifier: PA2825206125

Gene: SMPD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Ser486Arg	CA217302419 NM_000543.5:c.1458T>G CA379375455 NM_000543.5:c.1456A>C CA379375472 NM_000543.5:c.1458T>A