Canonical Allele Identifier: PA658804860
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501715
ClinVar RCV Id: RCV000595643 RCV002506436
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Pro332Leu
CA5852723
NM_000543.5:c.995C>T