Canonical Allele Identifier: PA2826978814
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305202
ClinVar RCV Id: RCV000348254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Phe329Cys
CA10639530
NM_001318087.2:c.986T>G