Canonical Allele Identifier: PA2825288270
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305197
ClinVar RCV Id: RCV000297445 RCV000728558 RCV001085400 RCV003950024
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Val116Met
CA5852586
NM_001007593.3:c.346G>A