Canonical Allele Identifier: PA1139742720
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992689
ClinVar RCV Id: RCV001281405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Leu266Pro
CA379371031
NM_001365135.1:c.797T>C