Canonical Allele Identifier: PA916045130
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 100731
ClinVar RCV Id: RCV000087097 RCV000169278 RCV000594578 RCV000689686 RCV001248881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Gly247Ser
CA267590
NM_001365135.1:c.739G>A