Canonical Allele Identifier: PA2828169354
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2131195
ClinVar RCV Id: RCV003061886
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.His383Tyr
CA379374249
NM_001365135.1:c.1147C>T