Canonical Allele Identifier: PA2828169526
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582293
ClinVar RCV Id: RCV003333259

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Asn450Ile
CA379375576
NM_001365135.1:c.1349A>T