Canonical Allele Identifier: PA2826979107
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93317
ClinVar RCV Id: RCV000079195 RCV000336908 RCV000588146 RCV001511035 RCV001533322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Gly201Arg
CA146859
NM_001318088.2:c.601G>A
CA347284
NM_001318088.2:c.601G>C