Canonical Allele Identifier: PA2828169442
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197685
ClinVar RCV Id: RCV000178790 RCV003387789 RCV002516782
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Thr416Pro
CA245953
NM_001365135.1:c.1246A>C