Canonical Allele Identifier: PA2828169359
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197160
ClinVar RCV Id: RCV000178119 RCV001852206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.His383Leu
CA245141
NM_001365135.1:c.1148A>T