Canonical Allele Identifier: PA201555
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195091
ClinVar RCV Id: RCV000175631 RCV000224205 RCV000383492 RCV001081402
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Arg296Gln
CA201554
NM_000543.5:c.887G>A