Canonical Allele Identifier: PA146858
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93311
ClinVar RCV Id: RCV000079189 RCV000315171 RCV000587397 RCV001520553 RCV001533318 RCV003891542
ClinVar Variation Id: 1090434
ClinVar RCV Id: RCV001409612
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Val36Ala
CA146857
NM_000543.5:c.107T>C
CA2499221113
NM_000543.5:c.107_108delinsCT