Canonical Allele Identifier: PA2499253350
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1173987
ClinVar RCV Id: RCV001527442
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.[Pro313Leu;Val314_Tyr315insGlyGlnHisGlyVal]
CA2499221118
NM_001365135.1:c.938_939delinsTGGTGGGCCAGCATGGT