Canonical Allele Identifier: PA2828169351
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432163
ClinVar RCV Id: RCV000498689 RCV000665319 RCV001851371 RCV004555866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Gly382Ser
CA379374228
NM_001365135.1:c.1144G>A