Canonical Allele Identifier: PA1139699239
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992704
ClinVar RCV Id: RCV001281420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Ala454Asp
CA379374837
NM_001318087.2:c.1361C>A