Canonical Allele Identifier: PA347292
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 203427
ClinVar RCV Id: RCV000192224 RCV001380608
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Ala359Asp
CA347291
NM_000543.5:c.1076C>A