Canonical Allele Identifier: PA645503884
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305197
ClinVar RCV Id: RCV000297445 RCV000728558 RCV001085400 RCV003950024
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Val117Met
CA5852586
NM_000543.5:c.349G>A