Canonical Allele Identifier: PA2826979003
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2992
ClinVar RCV Id: RCV000003126 RCV000192225 RCV000411474 RCV000634570 RCV000723415
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.His116Tyr
CA252523
NM_001318088.2:c.346C>T