Canonical Allele Identifier: PA2826978775
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195091
ClinVar RCV Id: RCV000175631 RCV000224205 RCV000383492 RCV001081402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Arg296Gln
CA201554
NM_001318087.2:c.887G>A