Canonical Allele Identifier: PA658655328
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 445832
ClinVar RCV Id: RCV000514622 RCV000780733 RCV001004370 RCV001247838 RCV001248880 RCV001579139 RCV002527432 RCV003942677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Gly492Ser
CA5852897
NM_000543.5:c.1474G>A