Canonical Allele Identifier: PA645503904
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305199
ClinVar RCV Id: RCV000382375 RCV000735167 RCV001085518 RCV003977882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Gly270Ser
CA5852691
NM_000543.5:c.808G>A