Canonical Allele Identifier: PA2826979126
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 437453
ClinVar RCV Id: RCV000504182 RCV002524354
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305017.1:p.Tyr212Cys
CA379376203
NM_001318088.2:c.635A>G