Canonical Allele Identifier: PA2573198664
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1594805
ClinVar RCV Id: RCV002108100 RCV002222756 RCV003138079
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Arg418Gln
CA5852825
NM_001318087.2:c.1253G>A