Canonical Allele Identifier: PA916022252
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235490
ClinVar RCV Id: RCV000224864 RCV000260007 RCV000671913 RCV001082792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Ala487Val
CA5852895
NM_001318087.2:c.1460C>T