Canonical Allele Identifier: PA2828169711
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225624
ClinVar RCV Id: RCV000211547 RCV003765358
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Leu514Pro
CA10576033
NM_001365135.1:c.1541T>C