Canonical Allele Identifier: PA2825288572
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289909
ClinVar RCV Id: RCV000355725 RCV002059274
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Arg388Cys
CA5852801
NM_001007593.3:c.1162C>T