Canonical Allele Identifier: PA246590
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198094
ClinVar RCV Id: RCV000179328 RCV001081864 RCV001249037 RCV000962425 RCV001786338 RCV001107855 RCV003967440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Glu517Val
CA246589
NM_000543.5:c.1550A>T