Canonical Allele Identifier: PA2825288515
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501715
ClinVar RCV Id: RCV000595643 RCV002506436
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Pro331Leu
CA5852723
NM_001007593.3:c.992C>T