Canonical Allele Identifier: PA2825288577
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2991
ClinVar RCV Id: RCV000003125 RCV000410490 RCV000797253 RCV001248981 RCV004546410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Trp392Gly
CA115899
NM_001007593.3:c.1174T>G