Canonical Allele Identifier: PA645503961
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225624
ClinVar RCV Id: RCV000211547 RCV003765358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Leu558Pro
CA10576033
NM_000543.5:c.1673T>C