Canonical Allele Identifier: PA2826979222
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188955
ClinVar RCV Id: RCV000169329 RCV001208506 RCV001781526 RCV001248877
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Arg295His
CA274179
NM_001318088.2:c.884G>A