Canonical Allele Identifier: PA2825205953
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164444
ClinVar RCV Id: RCV003088035
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Val314Ala
CA379371322
NM_000543.5:c.941T>C