Canonical Allele Identifier: PA2825288808
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 596113
ClinVar RCV Id: RCV000731833 RCV002535241 RCV002536471
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Arg590His
CA5852988
NM_001007593.3:c.1769G>A