Canonical Allele Identifier: PA2825288196
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93311
ClinVar RCV Id: RCV000079189 RCV000315171 RCV000587397 RCV001520553 RCV001533318 RCV003891542
ClinVar Variation Id: 1090434
ClinVar RCV Id: RCV001409612
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Val36Ala
CA146857
NM_001007593.3:c.107T>C
CA2499221113
NM_001007593.3:c.107_108delinsCT