Canonical Allele Identifier: PA1139742734
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 879582
ClinVar RCV Id: RCV001107211 RCV002067790 RCV001577517 RCV003160636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Pro353Leu
CA5852745
NM_001365135.1:c.1058C>T