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
ENSP00000435350.1:p.Gln524His
CA379376333
ENST00000527275.5:c.1572G>C
CA379376337
ENST00000527275.5:c.1572G>T