Canonical Allele Identifier: PA916045085
Gene: SMPD1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001352064.1:p.Trp56Ter
NM_001365135.1:c.167G>A

NM_001365135.1:c.168G>A