Canonical Allele Identifier: PA2828169631
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3046307
ClinVar RCV Id: RCV003943882
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Tyr475Phe
CA217302687
NM_001365135.1:c.1424A>T