Canonical Allele Identifier: PA2825288194
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 968932
ClinVar RCV Id: RCV001244173 RCV001829920
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Leu35_Val36insAlaLeuAlaLeu
CA472909376
NM_001007593.3:c.106_107insCGCTGGCGCTGG
CA918811630
NM_001007593.3:c.106_107insCGCTGGCGCTGGCGCTGG
CA1950145687
NM_001007593.3:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG