Canonical Allele Identifier: PA252531
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2996
ClinVar RCV Id: RCV000003131 RCV001379382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Tyr468Ser
CA252530
NM_001007593.3:c.1403A>C