This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000435950.1:p.Gln289His
CA379371185
ENST00000533123.5:c.867G>C
CA379371186
ENST00000533123.5:c.867G>T