Canonical Allele Identifier: PA891866047
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93310
ClinVar RCV Id: RCV000079188 RCV000394529 RCV000675396 RCV001249054 RCV001082924 RCV002415576
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Pro37Leu
CA146855
NM_001318088.2:c.110C>T