Canonical Allele Identifier: PA2826978677
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1173968
ClinVar RCV Id: RCV001527417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Cys223Ser
CA379370725
NM_001318087.2:c.667T>A
CA379370733
NM_001318087.2:c.668G>C