Canonical Allele Identifier: PA2741872286
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2927102
ClinVar RCV Id: RCV003781292
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Thr371Ser
CA5852759
NM_001365135.1:c.1111A>T
CA2739366482
NM_001365135.1:c.1112C>G