Canonical Allele Identifier: PA2580130795
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070825
ClinVar RCV Id: RCV002959192

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Phe574Val
CA379376891
NM_000543.5:c.1720T>G