Canonical Allele Identifier: PA916022242
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242451
ClinVar RCV Id: RCV001004367 RCV001384265
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Tyr448Cys
CA5852881
NM_001318087.2:c.1343A>G