Canonical Allele Identifier: PA2825288210
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 551239
ClinVar RCV Id: RCV000666240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Leu43_Ser50del
CA658822277
NM_001007593.3:c.126_149del