Canonical Allele Identifier: PA252528
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2995
ClinVar RCV Id: RCV000003130 RCV000780737 RCV001249038 RCV001824114 RCV001851602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Ala483Glu
CA252527
NM_001007593.3:c.1448C>A