Canonical Allele Identifier: PA2828169495
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577321
ClinVar RCV Id: RCV003324398

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Thr444Ala
CA379375504
NM_001365135.1:c.1330A>G