Canonical Allele Identifier: PA2825205988
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291288
ClinVar RCV Id: RCV000337275 RCV003409426
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Ala346Val
CA5852736
NM_000543.5:c.1037C>T