Canonical Allele Identifier: PA645503930
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242451
ClinVar RCV Id: RCV001004367 RCV001384265
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Tyr448Cys
CA5852881
NM_000543.5:c.1343A>G