Canonical Allele Identifier: PA2580221912
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164444
ClinVar RCV Id: RCV003088035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Val314Ala
CA379371322
NM_001365135.1:c.941T>C