Canonical Allele Identifier: PA2826979098
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Tyr193His
CA5852922
NM_001318088.2:c.577T>C
CA217302571
NM_001318088.2:c.576_577delinsAC