Canonical Allele Identifier: PA2826978767
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992130
ClinVar RCV Id: RCV001280460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Trp287Cys
CA379371170
NM_001318087.2:c.861G>C
CA379371171
NM_001318087.2:c.861G>T