Canonical Allele Identifier: PA2825288282
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 203424
ClinVar RCV Id: RCV000192219 RCV001169955 RCV001582677 RCV003765159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Leu138Pro
CA347285
NM_001007593.3:c.413T>C