Canonical Allele Identifier: PA2826979207
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 596113
ClinVar RCV Id: RCV000731833 RCV002535241 RCV002536471
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Arg284His
CA5852988
NM_001318088.2:c.851G>A