Canonical Allele Identifier: PA2826978829
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291287
ClinVar RCV Id: RCV000282193 RCV003409425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Arg341Cys
CA5852733
NM_001318087.2:c.1021C>T