Canonical Allele Identifier: PA275341
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198095
ClinVar RCV Id: RCV000179329 RCV000674497 RCV000700960 RCV001248982 RCV003955080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Arg498Cys
CA275340
NM_000543.5:c.1492C>T