Canonical Allele Identifier: PA252510
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2982
ClinVar RCV Id: RCV000003116 RCV001248875 RCV001851600
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Gly579Ser
CA252509
NM_000543.5:c.1735G>A