Canonical Allele Identifier: PA2825288160
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281886
ClinVar RCV Id: RCV000397745 RCV000674958 RCV000819250 RCV001276409 RCV003417882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Arg3His
CA5852452
NM_001007593.3:c.8G>A