Canonical Allele Identifier: PA2828169569
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Tyr456His
CA5852922
NM_001365135.1:c.1366T>C
CA217302571
NM_001365135.1:c.1365_1366delinsAC