Canonical Allele Identifier: PA2825288549
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288073
ClinVar RCV Id: RCV000292122 RCV001004584 RCV001249051 RCV001218398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Tyr368Cys
CA10605962
NM_001007593.3:c.1103A>G