Canonical Allele Identifier: PA916045161
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 550557
ClinVar RCV Id: RCV000665335 RCV003767946
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Trp342Cys
CA217299758
NM_001365135.1:c.1026G>T
CA379371710
NM_001365135.1:c.1026G>C