Canonical Allele Identifier: PA2826978932
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 551123
ClinVar RCV Id: RCV000666096
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Thr504Ser
CA379375738
NM_001318087.2:c.1510A>T
CA379375741
NM_001318087.2:c.1511C>G