Canonical Allele Identifier: PA2826978515
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 551360
ClinVar RCV Id: RCV000666400

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Ala40Pro
CA379367284
NM_001318087.2:c.118G>C