Canonical Allele Identifier: PA221155
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2989
ClinVar RCV Id: RCV000003123 RCV000175622 RCV000192222 RCV000984009 RCV001380607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Leu304Pro
CA221154
NM_000543.5:c.911T>C